Canonical Allele Identifier: CA404524687
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15297951T>A (hg19) chr19:g.15187140T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187140T>A , CM000681.2:g.15187140T>A GRCh38
NC_000019.9:g.15297951T>A , CM000681.1:g.15297951T>A GRCh37
NC_000019.8:g.15158951T>A NCBI36
NG_009819.1:g.18842A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.1805A>T MANE Select ENSP00000263388.1:p.Asp602Val
ENST00000263388.6:c.1805A>T ENSP00000263388.1:p.Asp602Val
ENST00000601011.1:c.1802A>T ENSP00000473138.1:p.Asp601Val
NM_000435.2:c.1805A>T NP_000426.2:p.Asp602Val
XM_005259924.3:c.1805A>T XP_005259981.1:p.Asp602Val
XM_005259924.4:c.1805A>T XP_005259981.1:p.Asp602Val
NM_000435.3:c.1805A>T MANE Select NP_000426.2:p.Asp602Val
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