Canonical Allele Identifier: CA404525944
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 994828
ClinVar RCV Id: RCV001288525
dbSNP Id: rs1317994194

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187276C>A , CM000681.2:g.15187276C>A GRCh38
NC_000019.9:g.15298087C>A , CM000681.1:g.15298087C>A GRCh37
NC_000019.8:g.15159087C>A NCBI36
NG_009819.1:g.18706G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1669G>T MANE Select ENSP00000263388.1:p.Gly557Cys
ENST00000263388.6:c.1669G>T ENSP00000263388.1:p.Gly557Cys
ENST00000601011.1:c.1666G>T ENSP00000473138.1:p.Gly556Cys
NM_000435.2:c.1669G>T NP_000426.2:p.Gly557Cys
XM_005259924.3:c.1669G>T XP_005259981.1:p.Gly557Cys
XM_005259924.4:c.1669G>T XP_005259981.1:p.Gly557Cys
NM_000435.3:c.1669G>T MANE Select NP_000426.2:p.Gly557Cys