Canonical Allele Identifier: CA12860334
Gene: NRG1 HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.32488779G>A , CM000670.2:g.32488779G>A GRCh38
NC_000008.10:g.32346295G>A , CM000670.1:g.32346295G>A GRCh37
NC_000008.9:g.32465837G>A NCBI36
NG_012005.1:g.854028G>A
NG_012005.2:g.854558G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000519301.6:c.38-107049G>A ENSP00000429582.1:n.38-107049G>A
ENST00000650856.1:c.38-107049G>A ENSP00000498216.1:n.38-107049G>A
ENST00000650866.1:c.38-107049G>A ENSP00000499045.1:n.38-107049G>A
ENST00000651149.1:c.38-107049G>A ENSP00000498375.1:n.38-107049G>A
ENST00000651335.1:c.72-107049G>A
ENST00000652698.1:c.38-107049G>A ENSP00000499008.1:n.38-107049G>A
ENST00000518104.5:c.38-107049G>A ENSP00000430053.1:n.38-107049G>A
ENST00000519301.5:c.38-107049G>A ENSP00000429582.1:n.38-107049G>A
ENST00000520407.5:c.746-107049G>A ENSP00000434640.1:n.746-107049G>A
ENST00000523534.5:c.305-107049G>A ENSP00000429067.1:n.305-107049G>A
ENST00000631040.2:c.50-107049G>A ENSP00000486375.1:n.50-107049G>A
NM_001159995.1:c.38-107049G>A NP_001153467.1:n.38-107049G>A
NM_001159999.1:c.38-107049G>A NP_001153471.1:n.38-107049G>A
NM_001160001.1:c.38-107049G>A NP_001153473.1:n.38-107049G>A
NM_013962.2:c.746-107049G>A NP_039256.2:n.746-107049G>A
XM_011544512.1:c.122-107049G>A XP_011542814.1:n.122-107049G>A
NM_001159995.2:c.38-107049G>A NP_001153467.1:n.38-107049G>A
NM_001159999.2:c.38-107049G>A NP_001153471.1:n.38-107049G>A
NM_001160001.2:c.38-107049G>A NP_001153473.1:n.38-107049G>A
NM_001322201.1:c.-555-107049G>A NP_001309130.1:n.-555-107049G>A
NM_001322202.1:c.-504-107049G>A NP_001309131.1:n.-504-107049G>A
XM_011544512.2:c.122-107049G>A XP_011542814.1:n.122-107049G>A
XM_017013365.2:c.122-107049G>A XP_016868854.1:n.122-107049G>A
XM_017013366.2:c.122-107049G>A XP_016868855.1:n.122-107049G>A
XM_017013367.1:c.122-107049G>A XP_016868856.1:n.122-107049G>A
XM_017013371.2:c.122-107049G>A XP_016868860.1:n.122-107049G>A
XM_017013372.2:c.122-107049G>A XP_016868861.1:n.122-107049G>A
NM_001159995.3:c.38-107049G>A NP_001153467.1:n.38-107049G>A
NM_001159999.3:c.38-107049G>A NP_001153471.1:n.38-107049G>A
NM_001160001.3:c.38-107049G>A NP_001153473.1:n.38-107049G>A
NM_001322201.2:c.-555-107049G>A NP_001309130.1:n.-555-107049G>A
NM_001322202.2:c.-504-107049G>A NP_001309131.1:n.-504-107049G>A
NM_013962.3:c.746-107049G>A NP_039256.2:n.746-107049G>A