Canonical Allele Identifier: CA783619190
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1406977407

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187063C>A , CM000681.2:g.15187063C>A GRCh38
NC_000019.9:g.15297874C>A , CM000681.1:g.15297874C>A GRCh37
NC_000019.8:g.15158874C>A NCBI36
NG_009819.1:g.18919G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1840+42G>T MANE Select ENSP00000263388.1:n.1840+42G>T
ENST00000263388.6:c.1840+42G>T ENSP00000263388.1:n.1840+42G>T
ENST00000601011.1:c.1837+42G>T ENSP00000473138.1:n.1837+42G>T
NM_000435.2:c.1840+42G>T NP_000426.2:n.1840+42G>T
XM_005259924.3:c.1840+42G>T XP_005259981.1:n.1840+42G>T
XM_005259924.4:c.1840+42G>T XP_005259981.1:n.1840+42G>T
NM_000435.3:c.1840+42G>T MANE Select NP_000426.2:n.1840+42G>T