Canonical Allele Identifier: CA2635402722

Gene: TRPV3

Linked Data

• gnomAD v4: 17-3518509-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3518509G>T , CM000679.2:g.3518509G>T	GRCh38
NC_000017.10:g.3421803G>T , CM000679.1:g.3421803G>T	GRCh37
NC_000017.9:g.3368553G>T	NCBI36
NG_032144.2:g.44487C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576742.6:c.2085+67C>A MANE Select	ENSP00000461518.2:n.2085+67C>A
ENST00000301365.8:c.2085+67C>A	ENSP00000301365.4:n.2085+67C>A
ENST00000381913.8:c.1347+67C>A
ENST00000571139.5:c.*2077+67C>A	ENSP00000458187.1:n.*2077+67C>A
ENST00000572519.1:c.2085+67C>A	ENSP00000460215.1:n.2085+67C>A
ENST00000573539.5:c.*2095+67C>A	ENSP00000458239.1:n.*2095+67C>A
ENST00000576742.5:c.2085+67C>A	ENSP00000461518.1:n.2085+67C>A
ENST00000577016.5:c.603+67C>A
ENST00000616411.4:c.2037+67C>A	ENSP00000483947.1:n.2037+67C>A
NM_001258205.1:c.2085+67C>A	NP_001245134.1:n.2085+67C>A
NM_145068.3:c.2085+67C>A	NP_659505.1:n.2085+67C>A
XM_011523694.1:c.1380+67C>A	XP_011521996.1:n.1380+67C>A
XM_011523695.1:c.1038+67C>A	XP_011521997.1:n.1038+67C>A
XR_934004.1:n.2159+67C>A
NM_001258205.2:c.2085+67C>A	NP_001245134.1:n.2085+67C>A
NM_145068.4:c.2085+67C>A MANE Select	NP_659505.1:n.2085+67C>A