Canonical Allele Identifier: CA16607215
Gene: TRPV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 391510
ClinVar RCV Id: RCV000438765
dbSNP Id: rs1057524115
MyVariant Identifiers: chr17:g.3427517C>A (hg19) chr17:g.3524223C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3524223C>A , CM000679.2:g.3524223C>A GRCh38
NC_000017.10:g.3427517C>A , CM000679.1:g.3427517C>A GRCh37
NC_000017.9:g.3374267C>A NCBI36
NG_032144.2:g.38773G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000576742.6:c.1718G>T MANE Select ENSP00000461518.2:p.Gly573Val
ENST00000301365.8:c.1718G>T ENSP00000301365.4:p.Gly573Val
ENST00000381913.8:c.980G>T
ENST00000571139.5:c.*1710G>T ENSP00000458187.1:n.*1710G>T
ENST00000572519.1:c.1718G>T ENSP00000460215.1:p.Gly573Val
ENST00000573539.5:c.*1728G>T ENSP00000458239.1:n.*1728G>T
ENST00000576742.5:c.1718G>T ENSP00000461518.1:p.Gly573Val
ENST00000577016.5:c.328+2631G>T
ENST00000616411.4:c.1670G>T ENSP00000483947.1:p.Gly557Val
NM_001258205.1:c.1718G>T NP_001245134.1:p.Gly573Val
NM_145068.3:c.1718G>T NP_659505.1:p.Gly573Val
XM_011523693.1:c.1577+2631G>T XP_011521995.1:n.1577+2631G>T
XM_011523694.1:c.1013G>T XP_011521996.1:p.Gly338Val
XM_011523695.1:c.671G>T XP_011521997.1:p.Gly224Val
XR_934004.1:n.1792G>T
NM_001258205.2:c.1718G>T NP_001245134.1:p.Gly573Val
NM_145068.4:c.1718G>T MANE Select NP_659505.1:p.Gly573Val
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