Canonical Allele Identifier: CA2324744283
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180197G= , CM000681.2:g.15180197G= GRCh38
NC_000019.9:g.15291008G= , CM000681.1:g.15291008G= GRCh37
NC_000019.8:g.15152008G= NCBI36
NG_009819.1:g.25785C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3202C= MANE Select ENSP00000263388.1:p.His1068=
ENST00000263388.6:c.3202C= ENSP00000263388.1:p.His1068=
ENST00000601011.1:c.3043C= ENSP00000473138.1:p.His1015=
NM_000435.2:c.3202C= NP_000426.2:p.His1068=
XM_005259924.3:c.3046C= XP_005259981.1:p.His1016=
XM_005259924.4:c.3046C= XP_005259981.1:p.His1016=
NM_000435.3:c.3202C= MANE Select NP_000426.2:p.His1068=