Canonical Allele Identifier: CA404534027

Gene: NOTCH3

Linked Data

• dbSNP Id: rs1188389375
• MyVariant Identifiers: chr19:g.15303004C>G (hg19) ; chr19:g.15192193C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192193C>G , CM000681.2:g.15192193C>G	GRCh38
NC_000019.9:g.15303004C>G , CM000681.1:g.15303004C>G	GRCh37
NC_000019.8:g.15164004C>G	NCBI36
NG_009819.1:g.13789G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.446G>C MANE Select	ENSP00000263388.1:p.Gly149Ala
ENST00000263388.6:c.446G>C	ENSP00000263388.1:p.Gly149Ala
ENST00000601011.1:c.443G>C	ENSP00000473138.1:p.Gly148Ala
NM_000435.2:c.446G>C	NP_000426.2:p.Gly149Ala
XM_005259924.3:c.446G>C	XP_005259981.1:p.Gly149Ala
XM_005259924.4:c.446G>C	XP_005259981.1:p.Gly149Ala
NM_000435.3:c.446G>C MANE Select	NP_000426.2:p.Gly149Ala