Canonical Allele Identifier: CA9262326
Gene: NOTCH3 HGNC NCBI
COSMIC:
COSM3756389 (not active)
COSM3756390 (not active)
MyVariant.info:
GRCh38 chr19:g.15160960G>A
GRCh37 chr19:g.15271771G>A
Revel Score:
ENST00000263388 (MANE Select) 0.143
gnomAD v2:
19:15271771 G / A
gnomAD v3:
19:15160960 G / A
gnomAD v4:
chr19-15160960-G-A
Joint Max Group AF 0.78348554 (NFE)
Genomes Max Group AF 0.77957993 (NFE)
Exomes Max Group AF 0.78342389 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15160960G>A , CM000681.2:g.15160960G>A GRCh38
NC_000019.9:g.15271771G>A , CM000681.1:g.15271771G>A GRCh37
NC_000019.8:g.15132771G>A NCBI36
NG_009819.1:g.45022C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.6668C>T MANE Select ENSP00000263388.1:p.Ala2223Val
ENST00000263388.6:c.6668C>T ENSP00000263388.1:p.Ala2223Val
NM_000435.2:c.6668C>T NP_000426.2:p.Ala2223Val
XM_005259924.3:c.6512C>T XP_005259981.1:p.Ala2171Val
XM_005259924.4:c.6512C>T XP_005259981.1:p.Ala2171Val
NM_000435.3:c.6668C>T MANE Select NP_000426.2:p.Ala2223Val
Search 100 bp 5'
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