Canonical Allele Identifier: CA404513965
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145420789

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180253A>C , CM000681.2:g.15180253A>C GRCh38
NC_000019.9:g.15291064A>C , CM000681.1:g.15291064A>C GRCh37
NC_000019.8:g.15152064A>C NCBI36
NG_009819.1:g.25729T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3146T>G MANE Select ENSP00000263388.1:p.Val1049Gly
ENST00000263388.6:c.3146T>G ENSP00000263388.1:p.Val1049Gly
ENST00000601011.1:c.2987T>G ENSP00000473138.1:p.Val996Gly
NM_000435.2:c.3146T>G NP_000426.2:p.Val1049Gly
XM_005259924.3:c.2990T>G XP_005259981.1:p.Val997Gly
XM_005259924.4:c.2990T>G XP_005259981.1:p.Val997Gly
NM_000435.3:c.3146T>G MANE Select NP_000426.2:p.Val1049Gly