Canonical Allele Identifier: CA2635403799

Gene: TRPV3

Linked Data

• gnomAD v4: 17-3524146-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524146G>A , CM000679.2:g.3524146G>A	GRCh38
NC_000017.10:g.3427440G>A , CM000679.1:g.3427440G>A	GRCh37
NC_000017.9:g.3374190G>A	NCBI36
NG_032144.2:g.38850C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000576742.6:c.1743+52C>T MANE Select	ENSP00000461518.2:n.1743+52C>T
ENST00000301365.8:c.1743+52C>T	ENSP00000301365.4:n.1743+52C>T
ENST00000381913.8:c.1005+52C>T
ENST00000571139.5:c.*1735+52C>T	ENSP00000458187.1:n.*1735+52C>T
ENST00000572519.1:c.1743+52C>T	ENSP00000460215.1:n.1743+52C>T
ENST00000573539.5:c.*1753+52C>T	ENSP00000458239.1:n.*1753+52C>T
ENST00000576742.5:c.1743+52C>T	ENSP00000461518.1:n.1743+52C>T
ENST00000577016.5:c.328+2708C>T
ENST00000616411.4:c.1695+52C>T	ENSP00000483947.1:n.1695+52C>T
NM_001258205.1:c.1743+52C>T	NP_001245134.1:n.1743+52C>T
NM_145068.3:c.1743+52C>T	NP_659505.1:n.1743+52C>T
XM_011523693.1:c.1577+2708C>T	XP_011521995.1:n.1577+2708C>T
XM_011523694.1:c.1038+52C>T	XP_011521996.1:n.1038+52C>T
XM_011523695.1:c.696+52C>T	XP_011521997.1:n.696+52C>T
XR_934004.1:n.1817+52C>T
NM_001258205.2:c.1743+52C>T	NP_001245134.1:n.1743+52C>T
NM_145068.4:c.1743+52C>T MANE Select	NP_659505.1:n.1743+52C>T