Canonical Allele Identifier: CA9263540
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2865876
ClinVar RCV Id: RCV003704919
dbSNP Id: rs747661515
ExAC: 19:15297936 C / T
gnomAD v2: 19-15297936-C-T
gnomAD v3: 19-15187125-C-T
gnomAD v4: 19-15187125-C-T
MyVariant Identifiers: chr19:g.15297936C>T (hg19) chr19:g.15187125C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187125C>T , CM000681.2:g.15187125C>T GRCh38
NC_000019.9:g.15297936C>T , CM000681.1:g.15297936C>T GRCh37
NC_000019.8:g.15158936C>T NCBI36
NG_009819.1:g.18857G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1820G>A MANE Select ENSP00000263388.1:p.Arg607His
ENST00000263388.6:c.1820G>A ENSP00000263388.1:p.Arg607His
ENST00000601011.1:c.1817G>A ENSP00000473138.1:p.Arg606His
NM_000435.2:c.1820G>A NP_000426.2:p.Arg607His
XM_005259924.3:c.1820G>A XP_005259981.1:p.Arg607His
XM_005259924.4:c.1820G>A XP_005259981.1:p.Arg607His
NM_000435.3:c.1820G>A MANE Select NP_000426.2:p.Arg607His
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