Canonical Allele Identifier: CA385287301

Gene: ERBB3

Linked Data

• dbSNP Id: rs1282468268
• gnomAD v2: 12-56481849-T-A
• gnomAD v4: 12-56088065-T-A
• MyVariant Identifiers: chr12:g.56481849T>A (hg19) ; chr12:g.56088065T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56088065T>A , CM000674.2:g.56088065T>A	GRCh38
NC_000012.11:g.56481849T>A , CM000674.1:g.56481849T>A	GRCh37
NC_000012.10:g.54768116T>A	NCBI36
NG_011529.1:g.12958T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682431.1:n.936T>A
ENST00000683018.1:c.600T>A	ENSP00000506822.1:p.Cys200Ter
ENST00000683059.1:c.600T>A	ENSP00000507402.1:p.Cys200Ter
ENST00000683164.1:c.600T>A	ENSP00000508051.1:p.Cys200Ter
ENST00000683653.1:n.731T>A
ENST00000684500.1:n.906T>A
ENST00000267101.8:c.777T>A MANE Select	ENSP00000267101.4:p.Cys259Ter
ENST00000267101.7:c.777T>A	ENSP00000267101.3:p.Cys259Ter
ENST00000415288.6:c.600T>A	ENSP00000408340.2:p.Cys200Ter
ENST00000546748.1:n.242T>A
ENST00000550869.5:c.25-6416T>A	ENSP00000448671.1:n.25-6416T>A
ENST00000551085.5:c.777T>A	ENSP00000448483.1:p.Cys259Ter
ENST00000551242.5:c.777T>A	ENSP00000447510.1:p.Cys259Ter
NM_001982.3:c.777T>A	NP_001973.2:p.Cys259Ter
NM_001982.4:c.777T>A MANE Select	NP_001973.2:p.Cys259Ter