Canonical Allele Identifier: CA505824318
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15290967A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180156A>G , CM000681.2:g.15180156A>G GRCh38
NC_000019.9:g.15290967A>G , CM000681.1:g.15290967A>G GRCh37
NC_000019.8:g.15151967A>G NCBI36
NG_009819.1:g.25826T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3243T>C MANE Select ENSP00000263388.1:p.Cys1081=
ENST00000263388.6:c.3243T>C ENSP00000263388.1:p.Cys1081=
ENST00000601011.1:c.3084T>C ENSP00000473138.1:p.Cys1028=
NM_000435.2:c.3243T>C NP_000426.2:p.Cys1081=
XM_005259924.3:c.3087T>C XP_005259981.1:p.Cys1029=
XM_005259924.4:c.3087T>C XP_005259981.1:p.Cys1029=
NM_000435.3:c.3243T>C MANE Select NP_000426.2:p.Cys1081=