Canonical Allele Identifier: CA2324750052

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192214A= , CM000681.2:g.15192214A=	GRCh38
NC_000019.9:g.15303025A= , CM000681.1:g.15303025A=	GRCh37
NC_000019.8:g.15164025A=	NCBI36
NG_009819.1:g.13768T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.425T= MANE Select	ENSP00000263388.1:p.Phe142=
ENST00000263388.6:c.425T=	ENSP00000263388.1:p.Phe142=
ENST00000601011.1:c.422T=	ENSP00000473138.1:p.Phe141=
NM_000435.2:c.425T=	NP_000426.2:p.Phe142=
XM_005259924.3:c.425T=	XP_005259981.1:p.Phe142=
XM_005259924.4:c.425T=	XP_005259981.1:p.Phe142=
NM_000435.3:c.425T= MANE Select	NP_000426.2:p.Phe142=