Canonical Allele Identifier: CA16043106
Gene: TRPV3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372610
ClinVar RCV Id: RCV000413873
dbSNP Id: rs1057517884

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3524238C>T , CM000679.2:g.3524238C>T GRCh38
NC_000017.10:g.3427532C>T , CM000679.1:g.3427532C>T GRCh37
NC_000017.9:g.3374282C>T NCBI36
NG_032144.2:g.38758G>A

Transcript Alleles

HGVS Amino-acid change
NM_001258205.1:c.1703G>A VV NP_001245134.1:p.Gly568Asp
NM_145068.3:c.1703G>A VV NP_659505.1:p.Gly568Asp
XM_011523693.1:c.1577+2616G>A XP_011521995.1:p.=
XM_011523694.1:c.998G>A XP_011521996.1:p.Gly333Asp
XM_011523695.1:c.656G>A XP_011521997.1:p.Gly219Asp
XR_934004.1:n.1777G>A
ENST00000301365.8:c.1703G>A ENSP00000301365.4:p.Gly568Asp
ENST00000381913.8:n.965G>A
ENST00000571139.5:c.*1695G>A ENSP00000458187.1:p.=
ENST00000572519.1:c.1703G>A ENSP00000460215.1:p.Gly568Asp
ENST00000573539.5:c.*1713G>A ENSP00000458239.1:p.=
ENST00000576742.5:c.1703G>A ENSP00000461518.1:p.Gly568Asp
ENST00000577016.5:n.328+2616G>A
ENST00000616411.4:n.1655G>A ENSP00000483947.1:p.Gly552Asp