Canonical Allele Identifier: CA237619604

Gene: ERBB3

Linked Data

• dbSNP Id: rs896201815
• gnomAD v2: 12-56482070-A-C
• gnomAD v3: 12-56088286-A-C
• gnomAD v4: 12-56088286-A-C
• MyVariant Identifiers: chr12:g.56482070A>C (hg19) ; chr12:g.56088286A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56088286A>C , CM000674.2:g.56088286A>C	GRCh38
NC_000012.11:g.56482070A>C , CM000674.1:g.56482070A>C	GRCh37
NC_000012.10:g.54768337A>C	NCBI36
NG_011529.1:g.13179A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682431.1:n.1033+124A>C
ENST00000683018.1:c.697+124A>C	ENSP00000506822.1:n.697+124A>C
ENST00000683059.1:c.697+124A>C	ENSP00000507402.1:n.697+124A>C
ENST00000683164.1:c.697+124A>C	ENSP00000508051.1:n.697+124A>C
ENST00000683653.1:n.828+124A>C
ENST00000684500.1:n.1003+124A>C
ENST00000267101.8:c.874+124A>C MANE Select	ENSP00000267101.4:n.874+124A>C
ENST00000267101.7:c.874+124A>C	ENSP00000267101.3:n.874+124A>C
ENST00000415288.6:c.697+124A>C	ENSP00000408340.2:n.697+124A>C
ENST00000546748.1:n.339+124A>C
ENST00000550869.5:c.25-6195A>C	ENSP00000448671.1:n.25-6195A>C
ENST00000551085.5:c.874+124A>C	ENSP00000448483.1:n.874+124A>C
ENST00000551242.5:c.874+124A>C	ENSP00000447510.1:n.874+124A>C
NM_001982.3:c.874+124A>C	NP_001973.2:n.874+124A>C
NM_001982.4:c.874+124A>C MANE Select	NP_001973.2:n.874+124A>C