Canonical Allele Identifier: CA404513935

Gene: NOTCH3

Linked Data

• MyVariant Identifiers: chr19:g.15291052T>A (hg19) ; chr19:g.15180241T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180241T>A , CM000681.2:g.15180241T>A	GRCh38
NC_000019.9:g.15291052T>A , CM000681.1:g.15291052T>A	GRCh37
NC_000019.8:g.15152052T>A	NCBI36
NG_009819.1:g.25741A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3158A>T MANE Select	ENSP00000263388.1:p.Gln1053Leu
ENST00000263388.6:c.3158A>T	ENSP00000263388.1:p.Gln1053Leu
ENST00000601011.1:c.2999A>T	ENSP00000473138.1:p.Gln1000Leu
NM_000435.2:c.3158A>T	NP_000426.2:p.Gln1053Leu
XM_005259924.3:c.3002A>T	XP_005259981.1:p.Gln1001Leu
XM_005259924.4:c.3002A>T	XP_005259981.1:p.Gln1001Leu
NM_000435.3:c.3158A>T MANE Select	NP_000426.2:p.Gln1053Leu