Canonical Allele Identifier: CA404525949
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187277A>C , CM000681.2:g.15187277A>C GRCh38
NC_000019.9:g.15298088A>C , CM000681.1:g.15298088A>C GRCh37
NC_000019.8:g.15159088A>C NCBI36
NG_009819.1:g.18705T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1668T>G MANE Select ENSP00000263388.1:p.His556Gln
ENST00000263388.6:c.1668T>G ENSP00000263388.1:p.His556Gln
ENST00000601011.1:c.1665T>G ENSP00000473138.1:p.His555Gln
NM_000435.2:c.1668T>G NP_000426.2:p.His556Gln
XM_005259924.3:c.1668T>G XP_005259981.1:p.His556Gln
XM_005259924.4:c.1668T>G XP_005259981.1:p.His556Gln
NM_000435.3:c.1668T>G MANE Select NP_000426.2:p.His556Gln