Canonical Allele Identifier: CA404513664

Gene: NOTCH3

Linked Data

• MyVariant Identifiers: chr19:g.15290998A>T (hg19) ; chr19:g.15180187A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180187A>T , CM000681.2:g.15180187A>T	GRCh38
NC_000019.9:g.15290998A>T , CM000681.1:g.15290998A>T	GRCh37
NC_000019.8:g.15151998A>T	NCBI36
NG_009819.1:g.25795T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3212T>A MANE Select	ENSP00000263388.1:p.Val1071Glu
ENST00000263388.6:c.3212T>A	ENSP00000263388.1:p.Val1071Glu
ENST00000601011.1:c.3053T>A	ENSP00000473138.1:p.Val1018Glu
NM_000435.2:c.3212T>A	NP_000426.2:p.Val1071Glu
XM_005259924.3:c.3056T>A	XP_005259981.1:p.Val1019Glu
XM_005259924.4:c.3056T>A	XP_005259981.1:p.Val1019Glu
NM_000435.3:c.3212T>A MANE Select	NP_000426.2:p.Val1071Glu