Canonical Allele Identifier: CA305777903
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 447857
ClinVar RCV Id: RCV000516383
dbSNP Id: rs767175703
gnomAD v2: 19-15302905-C-T
gnomAD v3: 19-15192094-C-T
gnomAD v4: 19-15192094-C-T
COSMIC: COSM3283159 COSM3283160
MyVariant Identifiers: chr19:g.15302905C>T (hg19) chr19:g.15192094C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192094C>T , CM000681.2:g.15192094C>T GRCh38
NC_000019.9:g.15302905C>T , CM000681.1:g.15302905C>T GRCh37
NC_000019.8:g.15163905C>T NCBI36
NG_009819.1:g.13888G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.545G>A MANE Select ENSP00000263388.1:p.Arg182His
ENST00000263388.6:c.545G>A ENSP00000263388.1:p.Arg182His
ENST00000601011.1:c.542G>A ENSP00000473138.1:p.Arg181His
NM_000435.2:c.545G>A NP_000426.2:p.Arg182His
XM_005259924.3:c.545G>A XP_005259981.1:p.Arg182His
XM_005259924.4:c.545G>A XP_005259981.1:p.Arg182His
NM_000435.3:c.545G>A MANE Select NP_000426.2:p.Arg182His
Search 100 bp 5'
Search 100 bp 3'