Canonical Allele Identifier: CA404524651
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187131A>G , CM000681.2:g.15187131A>G GRCh38
NC_000019.9:g.15297942A>G , CM000681.1:g.15297942A>G GRCh37
NC_000019.8:g.15158942A>G NCBI36
NG_009819.1:g.18851T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1814T>C MANE Select ENSP00000263388.1:p.Leu605Pro
ENST00000263388.6:c.1814T>C ENSP00000263388.1:p.Leu605Pro
ENST00000601011.1:c.1811T>C ENSP00000473138.1:p.Leu604Pro
NM_000435.2:c.1814T>C NP_000426.2:p.Leu605Pro
XM_005259924.3:c.1814T>C XP_005259981.1:p.Leu605Pro
XM_005259924.4:c.1814T>C XP_005259981.1:p.Leu605Pro
NM_000435.3:c.1814T>C MANE Select NP_000426.2:p.Leu605Pro