Canonical Allele Identifier: CA9263595

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 546089
• ClinVar RCV Id: RCV000657880 ; RCV000763038 ; RCV001805784 ; RCV000778145
• dbSNP Id: rs201118034
• ExAC: 19:15298126 G / A
• gnomAD v2: 19-15298126-G-A
• gnomAD v3: 19-15187315-G-A
• gnomAD v4: 19-15187315-G-A
• MyVariant Identifiers: chr19:g.15298126G>A (hg19) ; chr19:g.15187315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187315G>A , CM000681.2:g.15187315G>A	GRCh38
NC_000019.9:g.15298126G>A , CM000681.1:g.15298126G>A	GRCh37
NC_000019.8:g.15159126G>A	NCBI36
NG_009819.1:g.18667C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1630C>T MANE Select	ENSP00000263388.1:p.Arg544Cys
ENST00000263388.6:c.1630C>T	ENSP00000263388.1:p.Arg544Cys
ENST00000601011.1:c.1627C>T	ENSP00000473138.1:p.Arg543Cys
NM_000435.2:c.1630C>T	NP_000426.2:p.Arg544Cys
XM_005259924.3:c.1630C>T	XP_005259981.1:p.Arg544Cys
XM_005259924.4:c.1630C>T	XP_005259981.1:p.Arg544Cys
NM_000435.3:c.1630C>T MANE Select	NP_000426.2:p.Arg544Cys