Canonical Allele Identifier: CA6621807

Gene: ERBB3

Linked Data

• dbSNP Id: rs34379766
• ExAC: 12:56474143 C / T
• gnomAD v2: 12-56474143-C-T
• gnomAD v4: 12-56080359-C-T
• MyVariant Identifiers: chr12:g.56474143C>T (hg19) ; chr12:g.56080359C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56080359C>T , CM000674.2:g.56080359C>T	GRCh38
NC_000012.11:g.56474143C>T , CM000674.1:g.56474143C>T	GRCh37
NC_000012.10:g.54760410C>T	NCBI36
NG_011529.1:g.5252C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000549672.6:n.221C>T
ENST00000682431.1:n.218C>T
ENST00000683059.1:c.-96+425C>T	ENSP00000507402.1:n.-96+425C>T
ENST00000683653.1:n.13C>T
ENST00000684500.1:n.188C>T
ENST00000267101.8:c.59C>T MANE Select	ENSP00000267101.4:p.Ser20Phe
ENST00000643266.1:c.-95-3392C>T	ENSP00000495453.1:n.-95-3392C>T
ENST00000267101.7:c.59C>T	ENSP00000267101.3:p.Ser20Phe
ENST00000411731.6:c.59C>T	ENSP00000415753.2:p.Ser20Phe
ENST00000546884.1:n.156C>T
ENST00000549061.5:c.-119C>T	ENSP00000449138.1:n.-119C>T
ENST00000549282.5:c.59C>T	ENSP00000448636.1:p.Ser20Phe
ENST00000550869.5:c.24+35C>T	ENSP00000448671.1:n.24+35C>T
ENST00000551085.5:c.59C>T	ENSP00000448483.1:p.Ser20Phe
ENST00000551242.5:c.59C>T	ENSP00000447510.1:p.Ser20Phe
NM_001005915.1:c.59C>T	NP_001005915.1:p.Ser20Phe
NM_001982.3:c.59C>T	NP_001973.2:p.Ser20Phe
NM_001982.4:c.59C>T MANE Select	NP_001973.2:p.Ser20Phe