Canonical Allele Identifier: CA6622074

Gene: ERBB3

Linked Data

• dbSNP Id: rs758573987
• ExAC: 12:56481863 T / C
• gnomAD v2: 12-56481863-T-C
• gnomAD v4: 12-56088079-T-C
• COSMIC: COSM4043442 ; COSM4043443
• MyVariant Identifiers: chr12:g.56481863T>C (hg19) ; chr12:g.56088079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56088079T>C , CM000674.2:g.56088079T>C	GRCh38
NC_000012.11:g.56481863T>C , CM000674.1:g.56481863T>C	GRCh37
NC_000012.10:g.54768130T>C	NCBI36
NG_011529.1:g.12972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682431.1:n.950T>C
ENST00000683018.1:c.614T>C	ENSP00000506822.1:p.Val205Ala
ENST00000683059.1:c.614T>C	ENSP00000507402.1:p.Val205Ala
ENST00000683164.1:c.614T>C	ENSP00000508051.1:p.Val205Ala
ENST00000683653.1:n.745T>C
ENST00000684500.1:n.920T>C
ENST00000267101.8:c.791T>C MANE Select	ENSP00000267101.4:p.Val264Ala
ENST00000267101.7:c.791T>C	ENSP00000267101.3:p.Val264Ala
ENST00000415288.6:c.614T>C	ENSP00000408340.2:p.Val205Ala
ENST00000546748.1:n.256T>C
ENST00000550869.5:c.25-6402T>C	ENSP00000448671.1:n.25-6402T>C
ENST00000551085.5:c.791T>C	ENSP00000448483.1:p.Val264Ala
ENST00000551242.5:c.791T>C	ENSP00000447510.1:p.Val264Ala
NM_001982.3:c.791T>C	NP_001973.2:p.Val264Ala
NM_001982.4:c.791T>C MANE Select	NP_001973.2:p.Val264Ala