Canonical Allele Identifier: CA305770005
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1023734747

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180176C>T , CM000681.2:g.15180176C>T GRCh38
NC_000019.9:g.15290987C>T , CM000681.1:g.15290987C>T GRCh37
NC_000019.8:g.15151987C>T NCBI36
NG_009819.1:g.25806G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3223G>A MANE Select ENSP00000263388.1:p.Gly1075Ser
ENST00000263388.6:c.3223G>A ENSP00000263388.1:p.Gly1075Ser
ENST00000601011.1:c.3064G>A ENSP00000473138.1:p.Gly1022Ser
NM_000435.2:c.3223G>A NP_000426.2:p.Gly1075Ser
XM_005259924.3:c.3067G>A XP_005259981.1:p.Gly1023Ser
XM_005259924.4:c.3067G>A XP_005259981.1:p.Gly1023Ser
NM_000435.3:c.3223G>A MANE Select NP_000426.2:p.Gly1075Ser