Canonical Allele Identifier: CA505827354

Gene: NOTCH3

Linked Data

• MyVariant Identifiers: chr19:g.15298133C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187322C>G , CM000681.2:g.15187322C>G	GRCh38
NC_000019.9:g.15298133C>G , CM000681.1:g.15298133C>G	GRCh37
NC_000019.8:g.15159133C>G	NCBI36
NG_009819.1:g.18660G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1623G>C MANE Select	ENSP00000263388.1:p.Leu541=
ENST00000263388.6:c.1623G>C	ENSP00000263388.1:p.Leu541=
ENST00000601011.1:c.1620G>C	ENSP00000473138.1:p.Leu540=
NM_000435.2:c.1623G>C	NP_000426.2:p.Leu541=
XM_005259924.3:c.1623G>C	XP_005259981.1:p.Leu541=
XM_005259924.4:c.1623G>C	XP_005259981.1:p.Leu541=
NM_000435.3:c.1623G>C MANE Select	NP_000426.2:p.Leu541=