Canonical Allele Identifier: CA404535182
Gene: NOTCH3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.15192504C>G
GRCh37 chr19:g.15303315C>G
Revel Score:
ENST00000263388 (MANE Select) 0.844
ENST00000539383 0.844
ClinVar RCV:
RCV002475310
ClinVar Variation:
1807353
dbSNP:
28937321
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192504C>G , CM000681.2:g.15192504C>G GRCh38
NC_000019.9:g.15303315C>G , CM000681.1:g.15303315C>G GRCh37
NC_000019.8:g.15164315C>G NCBI36
NG_009819.1:g.13478G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.213G>C MANE Select ENSP00000263388.1:p.Trp71Cys
ENST00000263388.6:c.213G>C ENSP00000263388.1:p.Trp71Cys
ENST00000601011.1:c.210G>C ENSP00000473138.1:p.Trp70Cys
NM_000435.2:c.213G>C NP_000426.2:p.Trp71Cys
XM_005259924.3:c.213G>C XP_005259981.1:p.Trp71Cys
XM_005259924.4:c.213G>C XP_005259981.1:p.Trp71Cys
NM_000435.3:c.213G>C MANE Select NP_000426.2:p.Trp71Cys
Search 100 bp 5'
Search 100 bp 3'