Canonical Allele Identifier: CA506078749
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15302907G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192096G>A , CM000681.2:g.15192096G>A GRCh38
NC_000019.9:g.15302907G>A , CM000681.1:g.15302907G>A GRCh37
NC_000019.8:g.15163907G>A NCBI36
NG_009819.1:g.13886C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.543C>T MANE Select ENSP00000263388.1:p.Phe181=
ENST00000263388.6:c.543C>T ENSP00000263388.1:p.Phe181=
ENST00000601011.1:c.540C>T ENSP00000473138.1:p.Phe180=
NM_000435.2:c.543C>T NP_000426.2:p.Phe181=
XM_005259924.3:c.543C>T XP_005259981.1:p.Phe181=
XM_005259924.4:c.543C>T XP_005259981.1:p.Phe181=
NM_000435.3:c.543C>T MANE Select NP_000426.2:p.Phe181=