Canonical Allele Identifier: CA2635403808
Gene: TRPV3 HGNC NCBI

Linked Data

gnomAD v4: 17-3524155-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3524155C>A , CM000679.2:g.3524155C>A GRCh38
NC_000017.10:g.3427449C>A , CM000679.1:g.3427449C>A GRCh37
NC_000017.9:g.3374199C>A NCBI36
NG_032144.2:g.38841G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000576742.6:c.1743+43G>T MANE Select ENSP00000461518.2:n.1743+43G>T
ENST00000301365.8:c.1743+43G>T ENSP00000301365.4:n.1743+43G>T
ENST00000381913.8:c.1005+43G>T
ENST00000571139.5:c.*1735+43G>T ENSP00000458187.1:n.*1735+43G>T
ENST00000572519.1:c.1743+43G>T ENSP00000460215.1:n.1743+43G>T
ENST00000573539.5:c.*1753+43G>T ENSP00000458239.1:n.*1753+43G>T
ENST00000576742.5:c.1743+43G>T ENSP00000461518.1:n.1743+43G>T
ENST00000577016.5:c.328+2699G>T
ENST00000616411.4:c.1695+43G>T ENSP00000483947.1:n.1695+43G>T
NM_001258205.1:c.1743+43G>T NP_001245134.1:n.1743+43G>T
NM_145068.3:c.1743+43G>T NP_659505.1:n.1743+43G>T
XM_011523693.1:c.1577+2699G>T XP_011521995.1:n.1577+2699G>T
XM_011523694.1:c.1038+43G>T XP_011521996.1:n.1038+43G>T
XM_011523695.1:c.696+43G>T XP_011521997.1:n.696+43G>T
XR_934004.1:n.1817+43G>T
NM_001258205.2:c.1743+43G>T NP_001245134.1:n.1743+43G>T
NM_145068.4:c.1743+43G>T MANE Select NP_659505.1:n.1743+43G>T