Canonical Allele Identifier: CA249080
Gene: NRG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 218702
ClinVar RCV Id: RCV000202884
dbSNP Id: rs35641374
ExAC: 8:32505633 G / C
gnomAD v2: 8-32505633-G-C
gnomAD v3: 8-32648114-G-C
gnomAD v4: 8-32648114-G-C
MyVariant Identifiers: chr8:g.32505633G>C (hg19) chr8:g.32648114G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.32648114G>C , CM000670.2:g.32648114G>C GRCh38
NC_000008.10:g.32505633G>C , CM000670.1:g.32505633G>C GRCh37
NC_000008.9:g.32625175G>C NCBI36
NG_012005.1:g.1013366G>C
NG_012005.2:g.1013893G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000405005.8:c.502+31229G>C MANE Select ENSP00000384620.2:n.502+31229G>C
ENST00000651333.2:c.397G>C ENSP00000498590.1:p.Val133Leu
ENST00000519301.6:c.337+42431G>C ENSP00000429582.1:n.337+42431G>C
ENST00000520502.7:c.397G>C ENSP00000433289.1:p.Val133Leu
ENST00000523041.2:c.397G>C ENSP00000433350.2:p.Val133Leu
ENST00000650819.1:c.397G>C ENSP00000498946.1:p.Val133Leu
ENST00000650856.1:c.388+33550G>C ENSP00000498216.1:n.388+33550G>C
ENST00000650866.1:c.439+31229G>C ENSP00000499045.1:n.439+31229G>C
ENST00000650919.1:c.502+31229G>C ENSP00000498811.1:n.502+31229G>C
ENST00000650964.1:n.397+42431G>C
ENST00000650967.1:c.400+42431G>C ENSP00000498833.1:n.400+42431G>C
ENST00000650980.1:c.502+31229G>C ENSP00000498583.1:n.502+31229G>C
ENST00000651149.1:c.337+42431G>C ENSP00000498375.1:n.337+42431G>C
ENST00000651175.1:n.448+33550G>C
ENST00000651333.1:c.397G>C ENSP00000498590.1:p.Val133Leu
ENST00000651335.1:c.371+42431G>C
ENST00000651696.1:c.153G>C
ENST00000651807.1:n.939+31229G>C
ENST00000652588.1:c.616+31229G>C ENSP00000498367.1:n.616+31229G>C
ENST00000652592.1:c.397G>C ENSP00000498646.1:p.Val133Leu
ENST00000652698.1:c.388+33550G>C ENSP00000499008.1:n.388+33550G>C
ENST00000287842.7:c.502+31229G>C ENSP00000287842.4:n.502+31229G>C
ENST00000356819.7:c.502+31229G>C ENSP00000349275.6:n.502+31229G>C
ENST00000405005.7:c.502+31229G>C ENSP00000384620.2:n.502+31229G>C
ENST00000518104.5:c.388+33550G>C ENSP00000430053.1:n.388+33550G>C
ENST00000518206.5:c.138+31229G>C
ENST00000519301.5:c.337+42431G>C ENSP00000429582.1:n.337+42431G>C
ENST00000520407.5:c.1045+42431G>C ENSP00000434640.1:n.1045+42431G>C
ENST00000520502.6:c.397G>C ENSP00000433289.1:p.Val133Leu
ENST00000521670.5:c.502+31229G>C ENSP00000428828.1:n.502+31229G>C
ENST00000522569.1:n.241+31229G>C
ENST00000523041.1:c.277G>C ENSP00000433350.1:p.Val93Leu
ENST00000523079.5:c.502+31229G>C ENSP00000430120.1:n.502+31229G>C
ENST00000523534.5:c.706+31229G>C ENSP00000429067.1:n.706+31229G>C
ENST00000631040.2:c.451+31229G>C ENSP00000486375.1:n.451+31229G>C
NM_001159995.1:c.388+33550G>C NP_001153467.1:n.388+33550G>C
NM_001159999.1:c.439+31229G>C NP_001153471.1:n.439+31229G>C
NM_001160001.1:c.337+42431G>C NP_001153473.1:n.337+42431G>C
NM_001160002.1:c.451+33550G>C NP_001153474.1:n.451+33550G>C
NM_001160004.1:c.502+31229G>C NP_001153476.1:n.502+31229G>C
NM_001160005.1:c.400+42431G>C NP_001153477.1:n.400+42431G>C
NM_001160007.1:c.400+42431G>C NP_001153479.1:n.400+42431G>C
NM_001160008.1:c.502+31229G>C NP_001153480.1:n.502+31229G>C
NM_004495.3:c.502+31229G>C NP_004486.2:n.502+31229G>C
NM_013956.3:c.502+31229G>C NP_039250.2:n.502+31229G>C
NM_013957.3:c.502+31229G>C NP_039251.2:n.502+31229G>C
NM_013958.3:c.502+31229G>C NP_039252.2:n.502+31229G>C
NM_013959.3:c.397G>C NP_039253.1:p.Val133Leu
NM_013960.3:c.502+31229G>C NP_039254.1:n.502+31229G>C
NM_013962.2:c.1045+42431G>C NP_039256.2:n.1045+42431G>C
NM_013964.3:c.502+31229G>C NP_039258.1:n.502+31229G>C
XM_005273485.2:c.397G>C XP_005273542.1:p.Val133Leu
XM_005273486.2:c.397G>C XP_005273543.1:p.Val133Leu
XM_005273487.2:c.397G>C XP_005273544.1:p.Val133Leu
XM_011544512.1:c.523+31229G>C XP_011542814.1:n.523+31229G>C
XM_011544513.1:c.397G>C XP_011542815.1:p.Val133Leu
XM_011544514.1:c.397G>C XP_011542816.1:p.Val133Leu
NM_001159995.2:c.388+33550G>C NP_001153467.1:n.388+33550G>C
NM_001159999.2:c.439+31229G>C NP_001153471.1:n.439+31229G>C
NM_001160001.2:c.337+42431G>C NP_001153473.1:n.337+42431G>C
NM_001160004.2:c.502+31229G>C NP_001153476.1:n.502+31229G>C
NM_001322201.1:c.-205+33550G>C NP_001309130.1:n.-205+33550G>C
NM_001322202.1:c.-205+42431G>C NP_001309131.1:n.-205+42431G>C
NM_001322205.1:c.397G>C NP_001309134.1:p.Val133Leu
NM_001322206.1:c.397G>C NP_001309135.1:p.Val133Leu
NM_001322207.1:c.397G>C NP_001309136.1:p.Val133Leu
NM_013956.4:c.502+31229G>C NP_039250.2:n.502+31229G>C
NM_013957.4:c.502+31229G>C NP_039251.2:n.502+31229G>C
NM_013960.4:c.502+31229G>C NP_039254.1:n.502+31229G>C
NM_013964.4:c.502+31229G>C NP_039258.1:n.502+31229G>C
XM_005273486.3:c.397G>C XP_005273543.1:p.Val133Leu
XM_005273487.3:c.397G>C XP_005273544.1:p.Val133Leu
XM_011544512.2:c.523+31229G>C XP_011542814.1:n.523+31229G>C
XM_017013365.2:c.523+31229G>C XP_016868854.1:n.523+31229G>C
XM_017013366.2:c.523+31229G>C XP_016868855.1:n.523+31229G>C
XM_017013367.1:c.421+42431G>C XP_016868856.1:n.421+42431G>C
XM_017013368.2:c.400+42431G>C XP_016868857.1:n.400+42431G>C
XM_017013371.2:c.523+31229G>C XP_016868860.1:n.523+31229G>C
XM_017013372.2:c.523+31229G>C XP_016868861.1:n.523+31229G>C
XM_024447143.1:c.400+42431G>C XP_024302911.1:n.400+42431G>C
NM_001159995.3:c.388+33550G>C NP_001153467.1:n.388+33550G>C
NM_001159999.3:c.439+31229G>C NP_001153471.1:n.439+31229G>C
NM_001160001.3:c.337+42431G>C NP_001153473.1:n.337+42431G>C
NM_001160002.2:c.451+33550G>C NP_001153474.1:n.451+33550G>C
NM_001160004.3:c.502+31229G>C NP_001153476.1:n.502+31229G>C
NM_001160007.2:c.400+42431G>C NP_001153479.1:n.400+42431G>C
NM_001160008.2:c.502+31229G>C NP_001153480.1:n.502+31229G>C
NM_001322201.2:c.-205+33550G>C NP_001309130.1:n.-205+33550G>C
NM_001322202.2:c.-205+42431G>C NP_001309131.1:n.-205+42431G>C
NM_001322205.2:c.397G>C NP_001309134.1:p.Val133Leu
NM_001322206.2:c.397G>C NP_001309135.1:p.Val133Leu
NM_001322207.2:c.397G>C NP_001309136.1:p.Val133Leu
NM_004495.4:c.502+31229G>C NP_004486.2:n.502+31229G>C
NM_013956.5:c.502+31229G>C NP_039250.2:n.502+31229G>C
NM_013957.5:c.502+31229G>C NP_039251.2:n.502+31229G>C
NM_013960.5:c.502+31229G>C NP_039254.1:n.502+31229G>C
NM_013964.5:c.502+31229G>C MANE Select NP_039258.1:n.502+31229G>C
NM_001160005.2:c.400+42431G>C NP_001153477.1:n.400+42431G>C
NM_013958.4:c.502+31229G>C NP_039252.2:n.502+31229G>C
NM_013959.4:c.397G>C NP_039253.1:p.Val133Leu
NM_013962.3:c.1045+42431G>C NP_039256.2:n.1045+42431G>C
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