Canonical Allele Identifier: CA505827357

Gene: NOTCH3

Linked Data

• MyVariant Identifiers: chr19:g.15298136C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187325C>G , CM000681.2:g.15187325C>G	GRCh38
NC_000019.9:g.15298136C>G , CM000681.1:g.15298136C>G	GRCh37
NC_000019.8:g.15159136C>G	NCBI36
NG_009819.1:g.18657G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1620G>C MANE Select	ENSP00000263388.1:p.Thr540=
ENST00000263388.6:c.1620G>C	ENSP00000263388.1:p.Thr540=
ENST00000601011.1:c.1617G>C	ENSP00000473138.1:p.Thr539=
NM_000435.2:c.1620G>C	NP_000426.2:p.Thr540=
XM_005259924.3:c.1620G>C	XP_005259981.1:p.Thr540=
XM_005259924.4:c.1620G>C	XP_005259981.1:p.Thr540=
NM_000435.3:c.1620G>C MANE Select	NP_000426.2:p.Thr540=