Canonical Allele Identifier: CA9263833
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs751670994
ExAC: 19:15302782 G / A
gnomAD v2: 19-15302782-G-A
gnomAD v3: 19-15191971-G-A
gnomAD v4: 19-15191971-G-A
MyVariant Identifiers: chr19:g.15302782G>A (hg19) chr19:g.15191971G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191971G>A , CM000681.2:g.15191971G>A GRCh38
NC_000019.9:g.15302782G>A , CM000681.1:g.15302782G>A GRCh37
NC_000019.8:g.15163782G>A NCBI36
NG_009819.1:g.14011C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.668C>T MANE Select ENSP00000263388.1:p.Ala223Val
ENST00000263388.6:c.668C>T ENSP00000263388.1:p.Ala223Val
ENST00000601011.1:c.665C>T ENSP00000473138.1:p.Ala222Val
NM_000435.2:c.668C>T NP_000426.2:p.Ala223Val
XM_005259924.3:c.668C>T XP_005259981.1:p.Ala223Val
XM_005259924.4:c.668C>T XP_005259981.1:p.Ala223Val
NM_000435.3:c.668C>T MANE Select NP_000426.2:p.Ala223Val
Search 100 bp 5'
Search 100 bp 3'