Canonical Allele Identifier: CA404513185

Gene: NOTCH3

Linked Data

• MyVariant Identifiers: chr19:g.15290936G>C (hg19) ; chr19:g.15180125G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180125G>C , CM000681.2:g.15180125G>C	GRCh38
NC_000019.9:g.15290936G>C , CM000681.1:g.15290936G>C	GRCh37
NC_000019.8:g.15151936G>C	NCBI36
NG_009819.1:g.25857C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3274C>G MANE Select	ENSP00000263388.1:p.Pro1092Ala
ENST00000263388.6:c.3274C>G	ENSP00000263388.1:p.Pro1092Ala
ENST00000601011.1:c.3115C>G	ENSP00000473138.1:p.Pro1039Ala
NM_000435.2:c.3274C>G	NP_000426.2:p.Pro1092Ala
XM_005259924.3:c.3118C>G	XP_005259981.1:p.Pro1040Ala
XM_005259924.4:c.3118C>G	XP_005259981.1:p.Pro1040Ala
NM_000435.3:c.3274C>G MANE Select	NP_000426.2:p.Pro1092Ala