Canonical Allele Identifier: CA6622072

Gene: ERBB3

Linked Data

• dbSNP Id: rs370272057
• ExAC: 12:56481859 C / T
• MyVariant Identifiers: chr12:g.56481859C>T (hg19) ; chr12:g.56088075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56088075C>T , CM000674.2:g.56088075C>T	GRCh38
NC_000012.11:g.56481859C>T , CM000674.1:g.56481859C>T	GRCh37
NC_000012.10:g.54768126C>T	NCBI36
NG_011529.1:g.12968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682431.1:n.946C>T
ENST00000683018.1:c.610C>T	ENSP00000506822.1:p.Leu204Phe
ENST00000683059.1:c.610C>T	ENSP00000507402.1:p.Leu204Phe
ENST00000683164.1:c.610C>T	ENSP00000508051.1:p.Leu204Phe
ENST00000683653.1:n.741C>T
ENST00000684500.1:n.916C>T
ENST00000267101.8:c.787C>T MANE Select	ENSP00000267101.4:p.Leu263Phe
ENST00000267101.7:c.787C>T	ENSP00000267101.3:p.Leu263Phe
ENST00000415288.6:c.610C>T	ENSP00000408340.2:p.Leu204Phe
ENST00000546748.1:n.252C>T
ENST00000550869.5:c.25-6406C>T	ENSP00000448671.1:n.25-6406C>T
ENST00000551085.5:c.787C>T	ENSP00000448483.1:p.Leu263Phe
ENST00000551242.5:c.787C>T	ENSP00000447510.1:p.Leu263Phe
NM_001982.3:c.787C>T	NP_001973.2:p.Leu263Phe
NM_001982.4:c.787C>T MANE Select	NP_001973.2:p.Leu263Phe