Canonical Allele Identifier: CA385287169

Gene: ERBB3

Linked Data

• dbSNP Id: rs2136795034
• gnomAD v4: 12-56088048-G-C
• MyVariant Identifiers: chr12:g.56481832G>C (hg19) ; chr12:g.56088048G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56088048G>C , CM000674.2:g.56088048G>C	GRCh38
NC_000012.11:g.56481832G>C , CM000674.1:g.56481832G>C	GRCh37
NC_000012.10:g.54768099G>C	NCBI36
NG_011529.1:g.12941G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682431.1:n.919G>C
ENST00000683018.1:c.583G>C	ENSP00000506822.1:p.Ala195Pro
ENST00000683059.1:c.583G>C	ENSP00000507402.1:p.Ala195Pro
ENST00000683164.1:c.583G>C	ENSP00000508051.1:p.Ala195Pro
ENST00000683653.1:n.714G>C
ENST00000684500.1:n.889G>C
ENST00000267101.8:c.760G>C MANE Select	ENSP00000267101.4:p.Ala254Pro
ENST00000267101.7:c.760G>C	ENSP00000267101.3:p.Ala254Pro
ENST00000415288.6:c.583G>C	ENSP00000408340.2:p.Ala195Pro
ENST00000546748.1:n.225G>C
ENST00000549472.1:n.503G>C
ENST00000550869.5:c.25-6433G>C	ENSP00000448671.1:n.25-6433G>C
ENST00000551085.5:c.760G>C	ENSP00000448483.1:p.Ala254Pro
ENST00000551242.5:c.760G>C	ENSP00000447510.1:p.Ala254Pro
NM_001982.3:c.760G>C	NP_001973.2:p.Ala254Pro
NM_001982.4:c.760G>C MANE Select	NP_001973.2:p.Ala254Pro