Canonical Allele Identifier: CA9263863

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 1256527
• ClinVar RCV Id: RCV001663869 ; RCV002073107
• dbSNP Id: rs142778401
• ExAC: 19:15302914 C / A
• gnomAD v2: 19-15302914-C-A
• gnomAD v3: 19-15192103-C-A
• gnomAD v4: 19-15192103-C-A
• MyVariant Identifiers: chr19:g.15302914C>A (hg19) ; chr19:g.15192103C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192103C>A , CM000681.2:g.15192103C>A	GRCh38
NC_000019.9:g.15302914C>A , CM000681.1:g.15302914C>A	GRCh37
NC_000019.8:g.15163914C>A	NCBI36
NG_009819.1:g.13879G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.536G>T MANE Select	ENSP00000263388.1:p.Gly179Val
ENST00000263388.6:c.536G>T	ENSP00000263388.1:p.Gly179Val
ENST00000601011.1:c.533G>T	ENSP00000473138.1:p.Gly178Val
NM_000435.2:c.536G>T	NP_000426.2:p.Gly179Val
XM_005259924.3:c.536G>T	XP_005259981.1:p.Gly179Val
XM_005259924.4:c.536G>T	XP_005259981.1:p.Gly179Val
NM_000435.3:c.536G>T MANE Select	NP_000426.2:p.Gly179Val