Canonical Allele Identifier: CA225639

Gene: NRG1

Linked Data

• ClinVar Variation Id: 98385
• ClinVar RCV Id: RCV000084676
• dbSNP Id: rs367543154
• gnomAD v2: 8-31497623-C-A
• gnomAD v3: 8-31640107-C-A
• gnomAD v4: 8-31640107-C-A
• COSMIC: COSM4800274
• MyVariant Identifiers: chr8:g.31497623C>A (hg19) ; chr8:g.31640107C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31640107C>A , CM000670.2:g.31640107C>A	GRCh38
NC_000008.10:g.31497623C>A , CM000670.1:g.31497623C>A	GRCh37
NC_000008.9:g.31617165C>A	NCBI36
NG_012005.1:g.5356C>A
NG_012005.2:g.5886C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519301.6:c.37+676C>A	ENSP00000429582.1:n.37+676C>A
ENST00000650856.1:c.37+676C>A	ENSP00000498216.1:n.37+676C>A
ENST00000650866.1:c.37+676C>A	ENSP00000499045.1:n.37+676C>A
ENST00000651149.1:c.37+676C>A	ENSP00000498375.1:n.37+676C>A
ENST00000652698.1:c.37+676C>A	ENSP00000499008.1:n.37+676C>A
ENST00000518104.5:c.37+676C>A	ENSP00000430053.1:n.37+676C>A
ENST00000519301.5:c.37+676C>A	ENSP00000429582.1:n.37+676C>A
ENST00000520407.5:c.123C>A	ENSP00000434640.1:p.Thr41=
ENST00000614767.1:c.123C>A	ENSP00000483727.1:p.Thr41=
NM_001159995.1:c.37+676C>A	NP_001153467.1:n.37+676C>A
NM_001159999.1:c.37+676C>A	NP_001153471.1:n.37+676C>A
NM_001160001.1:c.37+676C>A	NP_001153473.1:n.37+676C>A
NM_013962.2:c.123C>A	NP_039256.2:p.Thr41=
NM_001159995.2:c.37+676C>A	NP_001153467.1:n.37+676C>A
NM_001159999.2:c.37+676C>A	NP_001153471.1:n.37+676C>A
NM_001160001.2:c.37+676C>A	NP_001153473.1:n.37+676C>A
NM_001322201.1:c.-556+676C>A	NP_001309130.1:n.-556+676C>A
NM_001322202.1:c.-505+676C>A	NP_001309131.1:n.-505+676C>A
NM_001159995.3:c.37+676C>A	NP_001153467.1:n.37+676C>A
NM_001159999.3:c.37+676C>A	NP_001153471.1:n.37+676C>A
NM_001160001.3:c.37+676C>A	NP_001153473.1:n.37+676C>A
NM_001322201.2:c.-556+676C>A	NP_001309130.1:n.-556+676C>A
NM_001322202.2:c.-505+676C>A	NP_001309131.1:n.-505+676C>A
NM_013962.3:c.123C>A	NP_039256.2:p.Thr41=