Canonical Allele Identifier: CA237619622

Gene: ERBB3

Linked Data

• dbSNP Id: rs527931493
• gnomAD v2: 12-56482122-C-G
• gnomAD v3: 12-56088338-C-G
• gnomAD v4: 12-56088338-C-G
• MyVariant Identifiers: chr12:g.56482122C>G (hg19) ; chr12:g.56088338C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56088338C>G , CM000674.2:g.56088338C>G	GRCh38
NC_000012.11:g.56482122C>G , CM000674.1:g.56482122C>G	GRCh37
NC_000012.10:g.54768389C>G	NCBI36
NG_011529.1:g.13231C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682431.1:n.1033+176C>G
ENST00000683018.1:c.697+176C>G	ENSP00000506822.1:n.697+176C>G
ENST00000683059.1:c.697+176C>G	ENSP00000507402.1:n.697+176C>G
ENST00000683164.1:c.697+176C>G	ENSP00000508051.1:n.697+176C>G
ENST00000683653.1:n.828+176C>G
ENST00000684500.1:n.1003+176C>G
ENST00000267101.8:c.874+176C>G MANE Select	ENSP00000267101.4:n.874+176C>G
ENST00000267101.7:c.874+176C>G	ENSP00000267101.3:n.874+176C>G
ENST00000415288.6:c.697+176C>G	ENSP00000408340.2:n.697+176C>G
ENST00000546748.1:n.339+176C>G
ENST00000550869.5:c.25-6143C>G	ENSP00000448671.1:n.25-6143C>G
ENST00000551085.5:c.874+176C>G	ENSP00000448483.1:n.874+176C>G
ENST00000551242.5:c.874+176C>G	ENSP00000447510.1:n.874+176C>G
NM_001982.3:c.874+176C>G	NP_001973.2:n.874+176C>G
NM_001982.4:c.874+176C>G MANE Select	NP_001973.2:n.874+176C>G