Canonical Allele Identifier: CA9263500
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 697974
ClinVar RCV Id: RCV000865115 RCV001288881 RCV004538229
dbSNP Id: rs148046938
ExAC: 19:15297709 A / T
gnomAD v2: 19-15297709-A-T
gnomAD v3: 19-15186898-A-T
gnomAD v4: 19-15186898-A-T
MyVariant Identifiers: chr19:g.15297709A>T (hg19) chr19:g.15186898A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186898A>T , CM000681.2:g.15186898A>T GRCh38
NC_000019.9:g.15297709A>T , CM000681.1:g.15297709A>T GRCh37
NC_000019.8:g.15158709A>T NCBI36
NG_009819.1:g.19084T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1931T>A MANE Select ENSP00000263388.1:p.Val644Asp
ENST00000263388.6:c.1931T>A ENSP00000263388.1:p.Val644Asp
ENST00000601011.1:c.1928T>A ENSP00000473138.1:p.Val643Asp
NM_000435.2:c.1931T>A NP_000426.2:p.Val644Asp
XM_005259924.3:c.1931T>A XP_005259981.1:p.Val644Asp
XM_005259924.4:c.1931T>A XP_005259981.1:p.Val644Asp
NM_000435.3:c.1931T>A MANE Select NP_000426.2:p.Val644Asp
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