Canonical Allele Identifier: CA9263772
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 493248
ClinVar RCV Id: RCV000585558
dbSNP Id: rs755998957
ExAC: 19:15302449 G / A
gnomAD v2: 19-15302449-G-A
gnomAD v3: 19-15191638-G-A
gnomAD v4: 19-15191638-G-A
COSMIC: COSM6003526 COSM6003527
MyVariant Identifiers: chr19:g.15302449G>A (hg19) chr19:g.15191638G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191638G>A , CM000681.2:g.15191638G>A GRCh38
NC_000019.9:g.15302449G>A , CM000681.1:g.15302449G>A GRCh37
NC_000019.8:g.15163449G>A NCBI36
NG_009819.1:g.14344C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.822C>T MANE Select ENSP00000263388.1:p.Asp274=
ENST00000263388.6:c.822C>T ENSP00000263388.1:p.Asp274=
ENST00000601011.1:c.819C>T ENSP00000473138.1:p.Asp273=
NM_000435.2:c.822C>T NP_000426.2:p.Asp274=
XM_005259924.3:c.822C>T XP_005259981.1:p.Asp274=
XM_005259924.4:c.822C>T XP_005259981.1:p.Asp274=
NM_000435.3:c.822C>T MANE Select NP_000426.2:p.Asp274=
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