Canonical Allele Identifier: CA505824622
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15291060C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180249C>G , CM000681.2:g.15180249C>G GRCh38
NC_000019.9:g.15291060C>G , CM000681.1:g.15291060C>G GRCh37
NC_000019.8:g.15152060C>G NCBI36
NG_009819.1:g.25733G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3150G>C MANE Select ENSP00000263388.1:p.Arg1050=
ENST00000263388.6:c.3150G>C ENSP00000263388.1:p.Arg1050=
ENST00000601011.1:c.2991G>C ENSP00000473138.1:p.Arg997=
NM_000435.2:c.3150G>C NP_000426.2:p.Arg1050=
XM_005259924.3:c.2994G>C XP_005259981.1:p.Arg998=
XM_005259924.4:c.2994G>C XP_005259981.1:p.Arg998=
NM_000435.3:c.3150G>C MANE Select NP_000426.2:p.Arg1050=