Canonical Allele Identifier: CA385279666
Gene: ERBB3 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56085070G>C , CM000674.2:g.56085070G>C GRCh38
NC_000012.11:g.56478854G>C , CM000674.1:g.56478854G>C GRCh37
NC_000012.10:g.54765121G>C NCBI36
NG_011529.1:g.9963G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000549672.6:n.472G>C
ENST00000682431.1:n.469G>C
ENST00000683018.1:c.133G>C ENSP00000506822.1:p.Val45Leu
ENST00000683059.1:c.133G>C ENSP00000507402.1:p.Val45Leu
ENST00000683164.1:c.133G>C ENSP00000508051.1:p.Val45Leu
ENST00000683653.1:n.264G>C
ENST00000684500.1:n.439G>C
ENST00000267101.8:c.310G>C MANE Select ENSP00000267101.4:p.Val104Leu
ENST00000267101.7:c.310G>C ENSP00000267101.3:p.Val104Leu
ENST00000411731.6:c.310G>C ENSP00000415753.2:p.Val104Leu
ENST00000415288.6:c.133G>C ENSP00000408340.2:p.Val45Leu
ENST00000546884.1:n.407G>C
ENST00000549061.5:c.133G>C ENSP00000449138.1:p.Val45Leu
ENST00000549282.5:c.310G>C ENSP00000448636.1:p.Val104Leu
ENST00000549672.5:c.133G>C ENSP00000449713.1:p.Val45Leu
ENST00000550869.5:c.24+4746G>C ENSP00000448671.1:n.24+4746G>C
ENST00000551085.5:c.310G>C ENSP00000448483.1:p.Val104Leu
ENST00000551242.5:c.310G>C ENSP00000447510.1:p.Val104Leu
NM_001005915.1:c.310G>C NP_001005915.1:p.Val104Leu
NM_001982.3:c.310G>C NP_001973.2:p.Val104Leu
NM_001982.4:c.310G>C MANE Select NP_001973.2:p.Val104Leu