Canonical Allele Identifier: CA404524681
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187138T>A , CM000681.2:g.15187138T>A GRCh38
NC_000019.9:g.15297949T>A , CM000681.1:g.15297949T>A GRCh37
NC_000019.8:g.15158949T>A NCBI36
NG_009819.1:g.18844A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.1807A>T MANE Select ENSP00000263388.1:p.Lys603Ter
ENST00000263388.6:c.1807A>T ENSP00000263388.1:p.Lys603Ter
ENST00000601011.1:c.1804A>T ENSP00000473138.1:p.Lys602Ter
NM_000435.2:c.1807A>T NP_000426.2:p.Lys603Ter
XM_005259924.3:c.1807A>T XP_005259981.1:p.Lys603Ter
XM_005259924.4:c.1807A>T XP_005259981.1:p.Lys603Ter
NM_000435.3:c.1807A>T MANE Select NP_000426.2:p.Lys603Ter