Canonical Allele Identifier: CA6623076

Gene: ERBB3

Linked Data

• ClinVar Variation Id: 253223
• ClinVar RCV Id: RCV000239667 ; RCV003323478
• dbSNP Id: rs755855285
• ExAC: 12:56495819 G / A
• gnomAD v2: 12-56495819-G-A
• gnomAD v3: 12-56102035-G-A
• gnomAD v4: 12-56102035-G-A
• MyVariant Identifiers: chr12:g.56495819G>A (hg19) ; chr12:g.56102035G>A (hg38)
• PubMed: PMID:27416908

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56102035G>A , CM000674.2:g.56102035G>A	GRCh38
NC_000012.11:g.56495819G>A , CM000674.1:g.56495819G>A	GRCh37
NC_000012.10:g.54782086G>A	NCBI36
NG_011529.1:g.26928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682431.1:n.5495G>A
ENST00000682512.1:n.2350G>A
ENST00000682873.1:n.1679G>A
ENST00000683018.1:c.3832G>A	ENSP00000506822.1:p.Ala1278Thr
ENST00000683059.1:c.3832G>A	ENSP00000507402.1:p.Ala1278Thr
ENST00000683142.1:n.1613G>A
ENST00000683164.1:c.3832G>A	ENSP00000508051.1:p.Ala1278Thr
ENST00000683653.1:n.4742G>A
ENST00000684500.1:n.5050G>A
ENST00000684766.1:n.2583G>A
ENST00000267101.8:c.4009G>A MANE Select	ENSP00000267101.4:p.Ala1337Thr
ENST00000548861.2:c.31+674G>A	ENSP00000449770.3:n.31+674G>A
ENST00000267101.7:c.4009G>A	ENSP00000267101.3:p.Ala1337Thr
ENST00000415288.6:c.3832G>A	ENSP00000408340.2:p.Ala1278Thr
ENST00000548861.1:c.22+674G>A	ENSP00000449770.2:n.22+674G>A
ENST00000549832.1:c.1369G>A	ENSP00000448729.1:p.Ala457Thr
ENST00000550070.6:c.1930G>A	ENSP00000448946.2:p.Ala644Thr
ENST00000551085.5:c.*1426G>A	ENSP00000448483.1:n.*1426G>A
ENST00000551242.5:c.*864G>A	ENSP00000447510.1:n.*864G>A
ENST00000553131.5:c.1732G>A	ENSP00000449129.1:p.Ala578Thr
NM_001982.3:c.4009G>A	NP_001973.2:p.Ala1337Thr
NM_001982.4:c.4009G>A MANE Select	NP_001973.2:p.Ala1337Thr