Canonical Allele Identifier: CA404513142

Gene: NOTCH3

Linked Data

• dbSNP Id: rs2145420415
• COSMIC: COSM4605133 ; COSM4605134
• MyVariant Identifiers: chr19:g.15290930G>A (hg19) ; chr19:g.15180119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180119G>A , CM000681.2:g.15180119G>A	GRCh38
NC_000019.9:g.15290930G>A , CM000681.1:g.15290930G>A	GRCh37
NC_000019.8:g.15151930G>A	NCBI36
NG_009819.1:g.25863C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263388.7:c.3280C>T MANE Select	ENSP00000263388.1:p.Gln1094Ter
ENST00000263388.6:c.3280C>T	ENSP00000263388.1:p.Gln1094Ter
ENST00000601011.1:c.3121C>T	ENSP00000473138.1:p.Gln1041Ter
NM_000435.2:c.3280C>T	NP_000426.2:p.Gln1094Ter
XM_005259924.3:c.3124C>T	XP_005259981.1:p.Gln1042Ter
XM_005259924.4:c.3124C>T	XP_005259981.1:p.Gln1042Ter
NM_000435.3:c.3280C>T MANE Select	NP_000426.2:p.Gln1094Ter