Canonical Allele Identifier: CA9263509
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2739054
ClinVar RCV Id: RCV003562815
dbSNP Id: rs755093899
ExAC: 19:15297750 G / A
gnomAD v2: 19-15297750-G-A
gnomAD v3: 19-15186939-G-A
gnomAD v4: 19-15186939-G-A
MyVariant Identifiers: chr19:g.15297750G>A (hg19) chr19:g.15186939G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186939G>A , CM000681.2:g.15186939G>A GRCh38
NC_000019.9:g.15297750G>A , CM000681.1:g.15297750G>A GRCh37
NC_000019.8:g.15158750G>A NCBI36
NG_009819.1:g.19043C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1890C>T MANE Select ENSP00000263388.1:p.Thr630=
ENST00000263388.6:c.1890C>T ENSP00000263388.1:p.Thr630=
ENST00000601011.1:c.1887C>T ENSP00000473138.1:p.Thr629=
NM_000435.2:c.1890C>T NP_000426.2:p.Thr630=
XM_005259924.3:c.1890C>T XP_005259981.1:p.Thr630=
XM_005259924.4:c.1890C>T XP_005259981.1:p.Thr630=
NM_000435.3:c.1890C>T MANE Select NP_000426.2:p.Thr630=
Search 100 bp 5'
Search 100 bp 3'