Canonical Allele Identifier: CA9263571
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2736831
ClinVar RCV Id: RCV003560091
dbSNP Id: rs773507679
ExAC: 19:15298041 G / A
gnomAD v2: 19-15298041-G-A
gnomAD v4: 19-15187230-G-A
MyVariant Identifiers: chr19:g.15298041G>A (hg19) chr19:g.15187230G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187230G>A , CM000681.2:g.15187230G>A GRCh38
NC_000019.9:g.15298041G>A , CM000681.1:g.15298041G>A GRCh37
NC_000019.8:g.15159041G>A NCBI36
NG_009819.1:g.18752C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1715C>T MANE Select ENSP00000263388.1:p.Pro572Leu
ENST00000263388.6:c.1715C>T ENSP00000263388.1:p.Pro572Leu
ENST00000601011.1:c.1712C>T ENSP00000473138.1:p.Pro571Leu
NM_000435.2:c.1715C>T NP_000426.2:p.Pro572Leu
XM_005259924.3:c.1715C>T XP_005259981.1:p.Pro572Leu
XM_005259924.4:c.1715C>T XP_005259981.1:p.Pro572Leu
NM_000435.3:c.1715C>T MANE Select NP_000426.2:p.Pro572Leu
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