Canonical Allele Identifier: CA9263887

Gene: NOTCH3

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)

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