Canonical Allele Identifier: CA287000177
Gene: TRPV3 HGNC NCBI

Linked Data

dbSNP Id: rs911951826
gnomAD v2: 17-3427548-G-A
gnomAD v3: 17-3524254-G-A
gnomAD v4: 17-3524254-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3524254G>A , CM000679.2:g.3524254G>A GRCh38
NC_000017.10:g.3427548G>A , CM000679.1:g.3427548G>A GRCh37
NC_000017.9:g.3374298G>A NCBI36
NG_032144.2:g.38742C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000576742.6:c.1687C>T MANE Select ENSP00000461518.2:p.Leu563Phe
ENST00000301365.8:c.1687C>T ENSP00000301365.4:p.Leu563Phe
ENST00000381913.8:c.949C>T
ENST00000571139.5:c.*1679C>T ENSP00000458187.1:n.*1679C>T
ENST00000572519.1:c.1687C>T ENSP00000460215.1:p.Leu563Phe
ENST00000573539.5:c.*1697C>T ENSP00000458239.1:n.*1697C>T
ENST00000576742.5:c.1687C>T ENSP00000461518.1:p.Leu563Phe
ENST00000577016.5:c.328+2600C>T
ENST00000616411.4:c.1639C>T ENSP00000483947.1:p.Leu547Phe
NM_001258205.1:c.1687C>T NP_001245134.1:p.Leu563Phe
NM_145068.3:c.1687C>T NP_659505.1:p.Leu563Phe
XM_011523693.1:c.1577+2600C>T XP_011521995.1:n.1577+2600C>T
XM_011523694.1:c.982C>T XP_011521996.1:p.Leu328Phe
XM_011523695.1:c.640C>T XP_011521997.1:p.Leu214Phe
XR_934004.1:n.1761C>T
NM_001258205.2:c.1687C>T NP_001245134.1:p.Leu563Phe
NM_145068.4:c.1687C>T MANE Select NP_659505.1:p.Leu563Phe