Canonical Allele Identifier: CA506078682

Gene: NOTCH3

Linked Data

• MyVariant Identifiers: chr19:g.15302853C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192042C>G , CM000681.2:g.15192042C>G	GRCh38
NC_000019.9:g.15302853C>G , CM000681.1:g.15302853C>G	GRCh37
NC_000019.8:g.15163853C>G	NCBI36
NG_009819.1:g.13940G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.597G>C MANE Select	ENSP00000263388.1:p.Val199=
ENST00000263388.6:c.597G>C	ENSP00000263388.1:p.Val199=
ENST00000601011.1:c.594G>C	ENSP00000473138.1:p.Val198=
NM_000435.2:c.597G>C	NP_000426.2:p.Val199=
XM_005259924.3:c.597G>C	XP_005259981.1:p.Val199=
XM_005259924.4:c.597G>C	XP_005259981.1:p.Val199=
NM_000435.3:c.597G>C MANE Select	NP_000426.2:p.Val199=