Canonical Allele Identifier: CA404532708
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1807359
ClinVar RCV Id: RCV002475316
dbSNP Id: rs1568361633

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191823C>G , CM000681.2:g.15191823C>G GRCh38
NC_000019.9:g.15302634C>G , CM000681.1:g.15302634C>G GRCh37
NC_000019.8:g.15163634C>G NCBI36
NG_009819.1:g.14159G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.724G>C MANE Select ENSP00000263388.1:p.Gly242Arg
ENST00000263388.6:c.724G>C ENSP00000263388.1:p.Gly242Arg
ENST00000601011.1:c.721G>C ENSP00000473138.1:p.Gly241Arg
NM_000435.2:c.724G>C NP_000426.2:p.Gly242Arg
XM_005259924.3:c.724G>C XP_005259981.1:p.Gly242Arg
XM_005259924.4:c.724G>C XP_005259981.1:p.Gly242Arg
NM_000435.3:c.724G>C MANE Select NP_000426.2:p.Gly242Arg