Canonical Allele Identifier: CA404513244

Gene: NOTCH3

Linked Data

• MyVariant Identifiers: chr19:g.15290943C>A (hg19) ; chr19:g.15180132C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180132C>A , CM000681.2:g.15180132C>A	GRCh38
NC_000019.9:g.15290943C>A , CM000681.1:g.15290943C>A	GRCh37
NC_000019.8:g.15151943C>A	NCBI36
NG_009819.1:g.25850G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3267G>T MANE Select	ENSP00000263388.1:p.Leu1089Phe
ENST00000263388.6:c.3267G>T	ENSP00000263388.1:p.Leu1089Phe
ENST00000601011.1:c.3108G>T	ENSP00000473138.1:p.Leu1036Phe
NM_000435.2:c.3267G>T	NP_000426.2:p.Leu1089Phe
XM_005259924.3:c.3111G>T	XP_005259981.1:p.Leu1037Phe
XM_005259924.4:c.3111G>T	XP_005259981.1:p.Leu1037Phe
NM_000435.3:c.3267G>T MANE Select	NP_000426.2:p.Leu1089Phe