Canonical Allele Identifier: CA225629

Gene: NRG1

Linked Data

• ClinVar Variation Id: 98380
• ClinVar RCV Id: RCV000084671 ; RCV003952532
• dbSNP Id: rs367543150
• ExAC: 8:31497511 G / A
• gnomAD v2: 8-31497511-G-A
• gnomAD v3: 8-31639995-G-A
• gnomAD v4: 8-31639995-G-A
• MyVariant Identifiers: chr8:g.31497511G>A (hg19) ; chr8:g.31639995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31639995G>A , CM000670.2:g.31639995G>A	GRCh38
NC_000008.10:g.31497511G>A , CM000670.1:g.31497511G>A	GRCh37
NC_000008.9:g.31617053G>A	NCBI36
NG_012005.1:g.5244G>A
NG_012005.2:g.5774G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519301.6:c.37+564G>A	ENSP00000429582.1:n.37+564G>A
ENST00000650856.1:c.37+564G>A	ENSP00000498216.1:n.37+564G>A
ENST00000650866.1:c.37+564G>A	ENSP00000499045.1:n.37+564G>A
ENST00000651149.1:c.37+564G>A	ENSP00000498375.1:n.37+564G>A
ENST00000652698.1:c.37+564G>A	ENSP00000499008.1:n.37+564G>A
ENST00000518104.5:c.37+564G>A	ENSP00000430053.1:n.37+564G>A
ENST00000519301.5:c.37+564G>A	ENSP00000429582.1:n.37+564G>A
ENST00000520407.5:c.11G>A	ENSP00000434640.1:p.Arg4Gln
ENST00000614767.1:c.11G>A	ENSP00000483727.1:p.Arg4Gln
NM_001159995.1:c.37+564G>A	NP_001153467.1:n.37+564G>A
NM_001159999.1:c.37+564G>A	NP_001153471.1:n.37+564G>A
NM_001160001.1:c.37+564G>A	NP_001153473.1:n.37+564G>A
NM_013962.2:c.11G>A	NP_039256.2:p.Arg4Gln
NM_001159995.2:c.37+564G>A	NP_001153467.1:n.37+564G>A
NM_001159999.2:c.37+564G>A	NP_001153471.1:n.37+564G>A
NM_001160001.2:c.37+564G>A	NP_001153473.1:n.37+564G>A
NM_001322201.1:c.-556+564G>A	NP_001309130.1:n.-556+564G>A
NM_001322202.1:c.-505+564G>A	NP_001309131.1:n.-505+564G>A
NM_001159995.3:c.37+564G>A	NP_001153467.1:n.37+564G>A
NM_001159999.3:c.37+564G>A	NP_001153471.1:n.37+564G>A
NM_001160001.3:c.37+564G>A	NP_001153473.1:n.37+564G>A
NM_001322201.2:c.-556+564G>A	NP_001309130.1:n.-556+564G>A
NM_001322202.2:c.-505+564G>A	NP_001309131.1:n.-505+564G>A
NM_013962.3:c.11G>A	NP_039256.2:p.Arg4Gln