Canonical Allele Identifier: CA404534107
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 995327
ClinVar RCV Id: RCV001289350
dbSNP Id: rs2046934287

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192209A>G , CM000681.2:g.15192209A>G GRCh38
NC_000019.9:g.15303020A>G , CM000681.1:g.15303020A>G GRCh37
NC_000019.8:g.15164020A>G NCBI36
NG_009819.1:g.13773T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.430T>C MANE Select ENSP00000263388.1:p.Cys144Arg
ENST00000263388.6:c.430T>C ENSP00000263388.1:p.Cys144Arg
ENST00000601011.1:c.427T>C ENSP00000473138.1:p.Cys143Arg
NM_000435.2:c.430T>C NP_000426.2:p.Cys144Arg
XM_005259924.3:c.430T>C XP_005259981.1:p.Cys144Arg
XM_005259924.4:c.430T>C XP_005259981.1:p.Cys144Arg
NM_000435.3:c.430T>C MANE Select NP_000426.2:p.Cys144Arg