Canonical Allele Identifier: CA9263874
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2145511
ClinVar RCV Id: RCV003071475
dbSNP Id: rs754465241
ExAC: 19:15302971 T / C
gnomAD v2: 19-15302971-T-C
gnomAD v3: 19-15192160-T-C
gnomAD v4: 19-15192160-T-C
MyVariant Identifiers: chr19:g.15302971T>C (hg19) chr19:g.15192160T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192160T>C , CM000681.2:g.15192160T>C GRCh38
NC_000019.9:g.15302971T>C , CM000681.1:g.15302971T>C GRCh37
NC_000019.8:g.15163971T>C NCBI36
NG_009819.1:g.13822A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.479A>G MANE Select ENSP00000263388.1:p.Asp160Gly
ENST00000263388.6:c.479A>G ENSP00000263388.1:p.Asp160Gly
ENST00000601011.1:c.476A>G ENSP00000473138.1:p.Asp159Gly
NM_000435.2:c.479A>G NP_000426.2:p.Asp160Gly
XM_005259924.3:c.479A>G XP_005259981.1:p.Asp160Gly
XM_005259924.4:c.479A>G XP_005259981.1:p.Asp160Gly
NM_000435.3:c.479A>G MANE Select NP_000426.2:p.Asp160Gly
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