Canonical Allele Identifier: CA2243923056
Gene: TRPV3 HGNC NCBI

Linked Data

dbSNP Id: rs2074272277

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3524143T>C , CM000679.2:g.3524143T>C GRCh38
NC_000017.10:g.3427437T>C , CM000679.1:g.3427437T>C GRCh37
NC_000017.9:g.3374187T>C NCBI36
NG_032144.2:g.38853A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000576742.6:c.1743+55A>G MANE Select ENSP00000461518.2:n.1743+55A>G
ENST00000301365.8:c.1743+55A>G ENSP00000301365.4:n.1743+55A>G
ENST00000381913.8:c.1005+55A>G
ENST00000571139.5:c.*1735+55A>G ENSP00000458187.1:n.*1735+55A>G
ENST00000572519.1:c.1743+55A>G ENSP00000460215.1:n.1743+55A>G
ENST00000573539.5:c.*1753+55A>G ENSP00000458239.1:n.*1753+55A>G
ENST00000576742.5:c.1743+55A>G ENSP00000461518.1:n.1743+55A>G
ENST00000577016.5:c.328+2711A>G
ENST00000616411.4:c.1695+55A>G ENSP00000483947.1:n.1695+55A>G
NM_001258205.1:c.1743+55A>G NP_001245134.1:n.1743+55A>G
NM_145068.3:c.1743+55A>G NP_659505.1:n.1743+55A>G
XM_011523693.1:c.1577+2711A>G XP_011521995.1:n.1577+2711A>G
XM_011523694.1:c.1038+55A>G XP_011521996.1:n.1038+55A>G
XM_011523695.1:c.696+55A>G XP_011521997.1:n.696+55A>G
XR_934004.1:n.1817+55A>G
NM_001258205.2:c.1743+55A>G NP_001245134.1:n.1743+55A>G
NM_145068.4:c.1743+55A>G MANE Select NP_659505.1:n.1743+55A>G