Canonical Allele Identifier: CA9263887
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs773630799
ExAC: 19:15303028 C / T
gnomAD v2: 19-15303028-C-T
gnomAD v3: 19-15192217-C-T
gnomAD v4: 19-15192217-C-T
COSMIC: COSM5470906 COSM5470907
MyVariant Identifiers: chr19:g.15303028C>T (hg19) chr19:g.15192217C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192217C>T , CM000681.2:g.15192217C>T GRCh38
NC_000019.9:g.15303028C>T , CM000681.1:g.15303028C>T GRCh37
NC_000019.8:g.15164028C>T NCBI36
NG_009819.1:g.13765G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.422G>A MANE Select ENSP00000263388.1:p.Arg141His
ENST00000263388.6:c.422G>A ENSP00000263388.1:p.Arg141His
ENST00000601011.1:c.419G>A ENSP00000473138.1:p.Arg140His
NM_000435.2:c.422G>A NP_000426.2:p.Arg141His
XM_005259924.3:c.422G>A XP_005259981.1:p.Arg141His
XM_005259924.4:c.422G>A XP_005259981.1:p.Arg141His
NM_000435.3:c.422G>A MANE Select NP_000426.2:p.Arg141His
Search 100 bp 5'
Search 100 bp 3'