Canonical Allele Identifier: CA305778069
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs751006822

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192220C>A , CM000681.2:g.15192220C>A GRCh38
NC_000019.9:g.15303031C>A , CM000681.1:g.15303031C>A GRCh37
NC_000019.8:g.15164031C>A NCBI36
NG_009819.1:g.13762G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.419G>T MANE Select ENSP00000263388.1:p.Gly140Val
ENST00000263388.6:c.419G>T ENSP00000263388.1:p.Gly140Val
ENST00000601011.1:c.416G>T ENSP00000473138.1:p.Gly139Val
NM_000435.2:c.419G>T NP_000426.2:p.Gly140Val
XM_005259924.3:c.419G>T XP_005259981.1:p.Gly140Val
XM_005259924.4:c.419G>T XP_005259981.1:p.Gly140Val
NM_000435.3:c.419G>T MANE Select NP_000426.2:p.Gly140Val