Canonical Allele Identifier: CA9263852
Gene: NOTCH3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 256148
dbSNP Id: rs1043994

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192033T>C , CM000681.2:g.15192033T>C GRCh38
NC_000019.9:g.15302844T>C , CM000681.1:g.15302844T>C GRCh37
NC_000019.8:g.15163844T>C NCBI36
NG_009819.1:g.13949A>G

Transcript Alleles

HGVS Amino-acid change
NM_000435.2:c.606A>G VV NP_000426.2:p.Ala202=
XM_005259924.3:c.606A>G XP_005259981.1:p.Ala202=
XM_005259924.4:c.606A>G XP_005259981.1:p.Ala202=
NM_000435.3:c.606A>G VV MANE Preferred NP_000426.2:p.Ala202=
ENST00000263388.6:c.606A>G ENSP00000263388.1:p.Ala202=
ENST00000601011.1:n.603A>G ENSP00000473138.1:p.Ala201=