Canonical Allele Identifier: CA9263576
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs574575017
ExAC: 19:15298065 G / T
gnomAD v2: 19-15298065-G-T
gnomAD v3: 19-15187254-G-T
gnomAD v4: 19-15187254-G-T
MyVariant Identifiers: chr19:g.15298065G>T (hg19) chr19:g.15187254G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187254G>T , CM000681.2:g.15187254G>T GRCh38
NC_000019.9:g.15298065G>T , CM000681.1:g.15298065G>T GRCh37
NC_000019.8:g.15159065G>T NCBI36
NG_009819.1:g.18728C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1691C>A MANE Select ENSP00000263388.1:p.Ala564Asp
ENST00000263388.6:c.1691C>A ENSP00000263388.1:p.Ala564Asp
ENST00000601011.1:c.1688C>A ENSP00000473138.1:p.Ala563Asp
NM_000435.2:c.1691C>A NP_000426.2:p.Ala564Asp
XM_005259924.3:c.1691C>A XP_005259981.1:p.Ala564Asp
XM_005259924.4:c.1691C>A XP_005259981.1:p.Ala564Asp
NM_000435.3:c.1691C>A MANE Select NP_000426.2:p.Ala564Asp
Search 100 bp 5'
Search 100 bp 3'