Canonical Allele Identifier: CA9263801

Gene: NOTCH3

Linked Data

• dbSNP Id: rs768437995
• ExAC: 19:15302627 C / T
• gnomAD v2: 19-15302627-C-T
• gnomAD v3: 19-15191816-C-T
• gnomAD v4: 19-15191816-C-T
• COSMIC: COSM992109 ; COSM1589818
• MyVariant Identifiers: chr19:g.15302627C>T (hg19) ; chr19:g.15191816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15191816C>T , CM000681.2:g.15191816C>T	GRCh38
NC_000019.9:g.15302627C>T , CM000681.1:g.15302627C>T	GRCh37
NC_000019.8:g.15163627C>T	NCBI36
NG_009819.1:g.14166G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.731G>A MANE Select	ENSP00000263388.1:p.Arg244Gln
ENST00000263388.6:c.731G>A	ENSP00000263388.1:p.Arg244Gln
ENST00000601011.1:c.728G>A	ENSP00000473138.1:p.Arg243Gln
NM_000435.2:c.731G>A	NP_000426.2:p.Arg244Gln
XM_005259924.3:c.731G>A	XP_005259981.1:p.Arg244Gln
XM_005259924.4:c.731G>A	XP_005259981.1:p.Arg244Gln
NM_000435.3:c.731G>A MANE Select	NP_000426.2:p.Arg244Gln