Canonical Allele Identifier: CA404533483
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192062G>C , CM000681.2:g.15192062G>C GRCh38
NC_000019.9:g.15302873G>C , CM000681.1:g.15302873G>C GRCh37
NC_000019.8:g.15163873G>C NCBI36
NG_009819.1:g.13920C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.577C>G MANE Select ENSP00000263388.1:p.Leu193Val
ENST00000263388.6:c.577C>G ENSP00000263388.1:p.Leu193Val
ENST00000601011.1:c.574C>G ENSP00000473138.1:p.Leu192Val
NM_000435.2:c.577C>G NP_000426.2:p.Leu193Val
XM_005259924.3:c.577C>G XP_005259981.1:p.Leu193Val
XM_005259924.4:c.577C>G XP_005259981.1:p.Leu193Val
NM_000435.3:c.577C>G MANE Select NP_000426.2:p.Leu193Val