Canonical Allele Identifier: CA506078733

Gene: NOTCH3

Linked Data

• MyVariant Identifiers: chr19:g.15302602C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15191791C>T , CM000681.2:g.15191791C>T	GRCh38
NC_000019.9:g.15302602C>T , CM000681.1:g.15302602C>T	GRCh37
NC_000019.8:g.15163602C>T	NCBI36
NG_009819.1:g.14191G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.756G>A MANE Select	ENSP00000263388.1:p.Val252=
ENST00000263388.6:c.756G>A	ENSP00000263388.1:p.Val252=
ENST00000601011.1:c.753G>A	ENSP00000473138.1:p.Val251=
NM_000435.2:c.756G>A	NP_000426.2:p.Val252=
XM_005259924.3:c.756G>A	XP_005259981.1:p.Val252=
XM_005259924.4:c.756G>A	XP_005259981.1:p.Val252=
NM_000435.3:c.756G>A MANE Select	NP_000426.2:p.Val252=