Canonical Allele Identifier: CA9263513
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1711470
ClinVar RCV Id: RCV002292986
dbSNP Id: rs777959915
ExAC: 19:15297774 G / A
gnomAD v2: 19-15297774-G-A
gnomAD v3: 19-15186963-G-A
gnomAD v4: 19-15186963-G-A
MyVariant Identifiers: chr19:g.15297774G>A (hg19) chr19:g.15186963G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186963G>A , CM000681.2:g.15186963G>A GRCh38
NC_000019.9:g.15297774G>A , CM000681.1:g.15297774G>A GRCh37
NC_000019.8:g.15158774G>A NCBI36
NG_009819.1:g.19019C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1866C>T MANE Select ENSP00000263388.1:p.Asp622=
ENST00000263388.6:c.1866C>T ENSP00000263388.1:p.Asp622=
ENST00000601011.1:c.1863C>T ENSP00000473138.1:p.Asp621=
NM_000435.2:c.1866C>T NP_000426.2:p.Asp622=
XM_005259924.3:c.1866C>T XP_005259981.1:p.Asp622=
XM_005259924.4:c.1866C>T XP_005259981.1:p.Asp622=
NM_000435.3:c.1866C>T MANE Select NP_000426.2:p.Asp622=
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