Canonical Allele Identifier: CA15560685

Gene: NRG1

Linked Data

• dbSNP Id: rs11780123
• gnomAD v2: 8-32631328-G-A
• gnomAD v3: 8-32773810-G-A
• gnomAD v4: 8-32773810-G-A
• MyVariant Identifiers: chr8:g.32631328G>A (hg19) ; chr8:g.32773810G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.32773810G>A , CM000670.2:g.32773810G>A	GRCh38
NC_000008.10:g.32631328G>A , CM000670.1:g.32631328G>A	GRCh37
NC_000008.9:g.32750870G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000405005.8:c.*9408G>A MANE Select	ENSP00000384620.2:n.*9408G>A
ENST00000651333.2:c.*10084G>A	ENSP00000498590.1:n.*10084G>A
ENST00000651335.1:c.942+13404G>A
ENST00000652698.1:c.*9408G>A	ENSP00000499008.1:n.*9408G>A
NM_001159995.3:c.*9408G>A	NP_001153467.1:n.*9408G>A
NM_001159999.3:c.*9408G>A	NP_001153471.1:n.*9408G>A
NM_001160001.3:c.*9408G>A	NP_001153473.1:n.*9408G>A
NM_001160004.3:c.*10084G>A	NP_001153476.1:n.*10084G>A
NM_001322197.2:c.*9408G>A	NP_001309126.1:n.*9408G>A
NM_001322201.2:c.*9408G>A	NP_001309130.1:n.*9408G>A
NM_001322202.2:c.*9408G>A	NP_001309131.1:n.*9408G>A
NM_001322205.2:c.*9408G>A	NP_001309134.1:n.*9408G>A
NM_001322206.2:c.*10084G>A	NP_001309135.1:n.*10084G>A
NM_013956.5:c.*9408G>A	NP_039250.2:n.*9408G>A
NM_013957.5:c.*9408G>A	NP_039251.2:n.*9408G>A
NM_013960.5:c.*10084G>A	NP_039254.1:n.*10084G>A
NM_013964.5:c.*9408G>A MANE Select	NP_039258.1:n.*9408G>A
NM_001159996.3:c.*10084G>A	NP_001153468.1:n.*10084G>A