Canonical Allele Identifier: CA175354120

Gene: NRG1

Linked Data

• dbSNP Id: rs1487141
• gnomAD v2: 8-32139652-G-C
• gnomAD v3: 8-32282136-G-C
• gnomAD v4: 8-32282136-G-C
• MyVariant Identifiers: chr8:g.32139652G>C (hg19) ; chr8:g.32282136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.32282136G>C , CM000670.2:g.32282136G>C	GRCh38
NC_000008.10:g.32139652G>C , CM000670.1:g.32139652G>C	GRCh37
NC_000008.9:g.32259194G>C	NCBI36
NG_012005.1:g.647385G>C
NG_012005.2:g.647915G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000519301.6:c.38-313692G>C	ENSP00000429582.1:n.38-313692G>C
ENST00000650856.1:c.38-313692G>C	ENSP00000498216.1:n.38-313692G>C
ENST00000650866.1:c.38-313692G>C	ENSP00000499045.1:n.38-313692G>C
ENST00000651149.1:c.38-313692G>C	ENSP00000498375.1:n.38-313692G>C
ENST00000651335.1:c.72-313692G>C
ENST00000652698.1:c.38-313692G>C	ENSP00000499008.1:n.38-313692G>C
ENST00000517967.1:n.78-4965G>C
ENST00000518104.5:c.38-313692G>C	ENSP00000430053.1:n.38-313692G>C
ENST00000519301.5:c.38-313692G>C	ENSP00000429582.1:n.38-313692G>C
ENST00000520407.5:c.746-313692G>C	ENSP00000434640.1:n.746-313692G>C
ENST00000523320.1:n.207-4965G>C
ENST00000523534.5:c.305-313692G>C	ENSP00000429067.1:n.305-313692G>C
ENST00000631040.2:c.49+61003G>C	ENSP00000486375.1:n.49+61003G>C
NM_001159995.1:c.38-313692G>C	NP_001153467.1:n.38-313692G>C
NM_001159999.1:c.38-313692G>C	NP_001153471.1:n.38-313692G>C
NM_001160001.1:c.38-313692G>C	NP_001153473.1:n.38-313692G>C
NM_013962.2:c.746-313692G>C	NP_039256.2:n.746-313692G>C
XM_011544512.1:c.122-313692G>C	XP_011542814.1:n.122-313692G>C
NM_001159995.2:c.38-313692G>C	NP_001153467.1:n.38-313692G>C
NM_001159999.2:c.38-313692G>C	NP_001153471.1:n.38-313692G>C
NM_001160001.2:c.38-313692G>C	NP_001153473.1:n.38-313692G>C
NM_001322201.1:c.-555-313692G>C	NP_001309130.1:n.-555-313692G>C
NM_001322202.1:c.-504-313692G>C	NP_001309131.1:n.-504-313692G>C
XM_011544512.2:c.122-313692G>C	XP_011542814.1:n.122-313692G>C
XM_017013365.2:c.122-313692G>C	XP_016868854.1:n.122-313692G>C
XM_017013366.2:c.122-313692G>C	XP_016868855.1:n.122-313692G>C
XM_017013367.1:c.122-313692G>C	XP_016868856.1:n.122-313692G>C
XM_017013371.2:c.122-313692G>C	XP_016868860.1:n.122-313692G>C
XM_017013372.2:c.122-313692G>C	XP_016868861.1:n.122-313692G>C
NM_001159995.3:c.38-313692G>C	NP_001153467.1:n.38-313692G>C
NM_001159999.3:c.38-313692G>C	NP_001153471.1:n.38-313692G>C
NM_001160001.3:c.38-313692G>C	NP_001153473.1:n.38-313692G>C
NM_001322201.2:c.-555-313692G>C	NP_001309130.1:n.-555-313692G>C
NM_001322202.2:c.-504-313692G>C	NP_001309131.1:n.-504-313692G>C
NM_013962.3:c.746-313692G>C	NP_039256.2:n.746-313692G>C