Canonical Allele Identifier: CA404526155

Gene: NOTCH3

Linked Data

• dbSNP Id: rs1404986621
• MyVariant Identifiers: chr19:g.15298143T>C (hg19) ; chr19:g.15187332T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187332T>C , CM000681.2:g.15187332T>C	GRCh38
NC_000019.9:g.15298143T>C , CM000681.1:g.15298143T>C	GRCh37
NC_000019.8:g.15159143T>C	NCBI36
NG_009819.1:g.18650A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1613A>G MANE Select	ENSP00000263388.1:p.Glu538Gly
ENST00000263388.6:c.1613A>G	ENSP00000263388.1:p.Glu538Gly
ENST00000601011.1:c.1610A>G	ENSP00000473138.1:p.Glu537Gly
NM_000435.2:c.1613A>G	NP_000426.2:p.Glu538Gly
XM_005259924.3:c.1613A>G	XP_005259981.1:p.Glu538Gly
XM_005259924.4:c.1613A>G	XP_005259981.1:p.Glu538Gly
NM_000435.3:c.1613A>G MANE Select	NP_000426.2:p.Glu538Gly