Canonical Allele Identifier: CA2620826043

Gene: TRPV4

Linked Data

• gnomAD v4: 12-109784303-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109784303C>T , CM000674.2:g.109784303C>T	GRCh38
NC_000012.11:g.110222108C>T , CM000674.1:g.110222108C>T	GRCh37
NC_000012.10:g.108706491C>T	NCBI36
NG_017090.1:g.54105G>A , LRG_372:g.54105G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.2458+13G>A MANE Select	ENSP00000261740.2:n.2458+13G>A
ENST00000418703.7:c.2458+13G>A	ENSP00000406191.2:n.2458+13G>A
ENST00000674908.1:c.*1545+13G>A	ENSP00000502012.1:n.*1545+13G>A
ENST00000675670.1:c.2458+13G>A	ENSP00000502135.1:n.2458+13G>A
ENST00000261740.6:c.2458+13G>A	ENSP00000261740.2:n.2458+13G>A
ENST00000418703.6:c.2458+13G>A	ENSP00000406191.2:n.2458+13G>A
ENST00000536838.1:c.2356+13G>A	ENSP00000444336.1:n.2356+13G>A
ENST00000537083.5:c.2278+13G>A	ENSP00000442738.1:n.2278+13G>A
ENST00000538125.5:c.*841+13G>A	ENSP00000437449.1:n.*841+13G>A
ENST00000541794.5:c.2317+13G>A	ENSP00000442167.1:n.2317+13G>A
ENST00000544971.5:c.2137+13G>A	ENSP00000443611.1:n.2137+13G>A
NM_001177428.1:c.2317+13G>A	NP_001170899.1:n.2317+13G>A
NM_001177431.1:c.2356+13G>A	NP_001170902.1:n.2356+13G>A
NM_001177433.1:c.2137+13G>A	NP_001170904.1:n.2137+13G>A
NM_021625.4:c.2458+13G>A , LRG_372t1:c.2458+13G>A	NP_067638.3:n.2458+13G>A
NM_147204.2:c.2278+13G>A	NP_671737.1:n.2278+13G>A
XM_005253918.1:c.2458+13G>A	XP_005253975.1:n.2458+13G>A
XM_011538630.1:c.2458+13G>A	XP_011536932.1:n.2458+13G>A
XM_011538631.1:c.2317+13G>A	XP_011536933.1:n.2317+13G>A
XM_011538632.1:c.2278+13G>A	XP_011536934.1:n.2278+13G>A
XM_011538633.1:c.2137+13G>A	XP_011536935.1:n.2137+13G>A
XM_011538630.2:c.2611+13G>A	XP_011536932.2:n.2611+13G>A
XM_011538631.2:c.2470+13G>A	XP_011536933.2:n.2470+13G>A
XM_011538632.2:c.2431+13G>A	XP_011536934.2:n.2431+13G>A
XM_011538633.2:c.2290+13G>A	XP_011536935.2:n.2290+13G>A
XM_017019774.1:c.2458+13G>A	XP_016875263.1:n.2458+13G>A
NM_021625.5:c.2458+13G>A MANE Select	NP_067638.3:n.2458+13G>A