Canonical Allele Identifier: CA9263060

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 328395
• ClinVar RCV Id: RCV001812862 ; RCV003957678
• dbSNP Id: rs200504060
• ExAC: 19:15290031 G / A
• gnomAD v2: 19-15290031-G-A
• gnomAD v3: 19-15179220-G-A
• gnomAD v4: 19-15179220-G-A
• COSMIC: COSM3283020 ; COSM3283021
• MyVariant Identifiers: chr19:g.15290031G>A (hg19) ; chr19:g.15179220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15179220G>A , CM000681.2:g.15179220G>A	GRCh38
NC_000019.9:g.15290031G>A , CM000681.1:g.15290031G>A	GRCh37
NC_000019.8:g.15151031G>A	NCBI36
NG_009819.1:g.26762C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263388.7:c.3523C>T MANE Select	ENSP00000263388.1:p.Arg1175Trp
ENST00000263388.6:c.3523C>T	ENSP00000263388.1:p.Arg1175Trp
ENST00000595045.1:n.359C>T
ENST00000600841.1:n.1C>T
ENST00000601011.1:c.3364C>T	ENSP00000473138.1:p.Arg1122Trp
NM_000435.2:c.3523C>T	NP_000426.2:p.Arg1175Trp
XM_005259924.3:c.3367C>T	XP_005259981.1:p.Arg1123Trp
XM_005259924.4:c.3367C>T	XP_005259981.1:p.Arg1123Trp
NM_000435.3:c.3523C>T MANE Select	NP_000426.2:p.Arg1175Trp