Canonical Allele Identifier: CA505824437
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 725995
ClinVar RCV Id: RCV000900147
dbSNP Id: rs569728292
gnomAD v2: 19-15291039-C-T
gnomAD v3: 19-15180228-C-T
gnomAD v4: 19-15180228-C-T
MyVariant Identifiers: chr19:g.15291039C>T (hg19) chr19:g.15180228C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180228C>T , CM000681.2:g.15180228C>T GRCh38
NC_000019.9:g.15291039C>T , CM000681.1:g.15291039C>T GRCh37
NC_000019.8:g.15152039C>T NCBI36
NG_009819.1:g.25754G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3171G>A MANE Select ENSP00000263388.1:p.Ala1057=
ENST00000263388.6:c.3171G>A ENSP00000263388.1:p.Ala1057=
ENST00000601011.1:c.3012G>A ENSP00000473138.1:p.Ala1004=
NM_000435.2:c.3171G>A NP_000426.2:p.Ala1057=
XM_005259924.3:c.3015G>A XP_005259981.1:p.Ala1005=
XM_005259924.4:c.3015G>A XP_005259981.1:p.Ala1005=
NM_000435.3:c.3171G>A MANE Select NP_000426.2:p.Ala1057=
Search 100 bp 5'
Search 100 bp 3'