Canonical Allele Identifier: CA340884

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192134G>A , CM000681.2:g.15192134G>A	GRCh38
NC_000019.9:g.15302945G>A , CM000681.1:g.15302945G>A	GRCh37
NC_000019.8:g.15163945G>A	NCBI36
NG_009819.1:g.13848C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000435.3:c.505C>T MANE Select	NP_000426.2:p.Arg169Cys
ENST00000263388.7:c.505C>T MANE Select	ENSP00000263388.1:p.Arg169Cys
NM_000435.2:c.505C>T	NP_000426.2:p.Arg169Cys
ENST00000263388.6:c.505C>T	ENSP00000263388.1:p.Arg169Cys
ENST00000601011.1:c.502C>T	ENSP00000473138.1:p.Arg168Cys
XM_005259924.3:c.505C>T	XP_005259981.1:p.Arg169Cys
XM_005259924.4:c.505C>T	XP_005259981.1:p.Arg169Cys