Canonical Allele Identifier: CA404533455
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 804643
ClinVar RCV Id: RCV000991717
dbSNP Id: rs1599394696

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192056C>T , CM000681.2:g.15192056C>T GRCh38
NC_000019.9:g.15302867C>T , CM000681.1:g.15302867C>T GRCh37
NC_000019.8:g.15163867C>T NCBI36
NG_009819.1:g.13926G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.583G>A MANE Select ENSP00000263388.1:p.Glu195Lys
ENST00000263388.6:c.583G>A ENSP00000263388.1:p.Glu195Lys
ENST00000601011.1:c.580G>A ENSP00000473138.1:p.Glu194Lys
NM_000435.2:c.583G>A NP_000426.2:p.Glu195Lys
XM_005259924.3:c.583G>A XP_005259981.1:p.Glu195Lys
XM_005259924.4:c.583G>A XP_005259981.1:p.Glu195Lys
NM_000435.3:c.583G>A MANE Select NP_000426.2:p.Glu195Lys