Canonical Allele Identifier: CA2635402706
Gene: TRPV3 HGNC NCBI

Linked Data

gnomAD v4: 17-3518500-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3518500C>T , CM000679.2:g.3518500C>T GRCh38
NC_000017.10:g.3421794C>T , CM000679.1:g.3421794C>T GRCh37
NC_000017.9:g.3368544C>T NCBI36
NG_032144.2:g.44496G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000576742.6:c.2085+76G>A MANE Select ENSP00000461518.2:n.2085+76G>A
ENST00000301365.8:c.2085+76G>A ENSP00000301365.4:n.2085+76G>A
ENST00000381913.8:c.1347+76G>A
ENST00000571139.5:c.*2077+76G>A ENSP00000458187.1:n.*2077+76G>A
ENST00000572519.1:c.2085+76G>A ENSP00000460215.1:n.2085+76G>A
ENST00000573539.5:c.*2095+76G>A ENSP00000458239.1:n.*2095+76G>A
ENST00000576742.5:c.2085+76G>A ENSP00000461518.1:n.2085+76G>A
ENST00000577016.5:c.603+76G>A
ENST00000616411.4:c.2037+76G>A ENSP00000483947.1:n.2037+76G>A
NM_001258205.1:c.2085+76G>A NP_001245134.1:n.2085+76G>A
NM_145068.3:c.2085+76G>A NP_659505.1:n.2085+76G>A
XM_011523694.1:c.1380+76G>A XP_011521996.1:n.1380+76G>A
XM_011523695.1:c.1038+76G>A XP_011521997.1:n.1038+76G>A
XR_934004.1:n.2159+76G>A
NM_001258205.2:c.2085+76G>A NP_001245134.1:n.2085+76G>A
NM_145068.4:c.2085+76G>A MANE Select NP_659505.1:n.2085+76G>A