Canonical Allele Identifier: CA404513034

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180103C>T , CM000681.2:g.15180103C>T	GRCh38
NC_000019.9:g.15290914C>T , CM000681.1:g.15290914C>T	GRCh37
NC_000019.8:g.15151914C>T	NCBI36
NG_009819.1:g.25879G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000435.3:c.3296G>A MANE Select	NP_000426.2:p.Cys1099Tyr
ENST00000263388.7:c.3296G>A MANE Select	ENSP00000263388.1:p.Cys1099Tyr
NM_000435.2:c.3296G>A	NP_000426.2:p.Cys1099Tyr
ENST00000263388.6:c.3296G>A	ENSP00000263388.1:p.Cys1099Tyr
ENST00000601011.1:c.3137G>A	ENSP00000473138.1:p.Cys1046Tyr
XM_005259924.3:c.3140G>A	XP_005259981.1:p.Cys1047Tyr
XM_005259924.4:c.3140G>A	XP_005259981.1:p.Cys1047Tyr