Canonical Allele Identifier: CA386648822

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109784383C>G , CM000674.2:g.109784383C>G	GRCh38
NC_000012.11:g.110222188C>G , CM000674.1:g.110222188C>G	GRCh37
NC_000012.10:g.108706571C>G	NCBI36
NG_017090.1:g.54025G>C , LRG_372:g.54025G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021625.5:c.2391G>C MANE Select	NP_067638.3:p.Glu797Asp
ENST00000261740.7:c.2391G>C MANE Select	ENSP00000261740.2:p.Glu797Asp
NM_001177428.1:c.2250G>C	NP_001170899.1:p.Glu750Asp
NM_001177431.1:c.2289G>C	NP_001170902.1:p.Glu763Asp
NM_001177433.1:c.2070G>C	NP_001170904.1:p.Glu690Asp
NM_021625.4:c.2391G>C , LRG_372t1:c.2391G>C	NP_067638.3:p.Glu797Asp
NM_147204.2:c.2211G>C	NP_671737.1:p.Glu737Asp
ENST00000261740.6:c.2391G>C	ENSP00000261740.2:p.Glu797Asp
ENST00000418703.6:c.2391G>C	ENSP00000406191.2:p.Glu797Asp
ENST00000418703.7:c.2391G>C	ENSP00000406191.2:p.Glu797Asp
ENST00000536838.1:c.2289G>C	ENSP00000444336.1:p.Glu763Asp
ENST00000537083.5:c.2211G>C	ENSP00000442738.1:p.Glu737Asp
ENST00000538125.5:c.*774G>C	ENSP00000437449.1:n.*774G>C
ENST00000541794.5:c.2250G>C	ENSP00000442167.1:p.Glu750Asp
ENST00000544971.5:c.2070G>C	ENSP00000443611.1:p.Glu690Asp
ENST00000674908.1:c.*1478G>C	ENSP00000502012.1:n.*1478G>C
ENST00000675670.1:c.2391G>C	ENSP00000502135.1:p.Glu797Asp
XM_005253918.1:c.2391G>C	XP_005253975.1:p.Glu797Asp
XM_011538630.1:c.2391G>C	XP_011536932.1:p.Glu797Asp
XM_011538630.2:c.2544G>C	XP_011536932.2:p.Glu848Asp
XM_011538631.1:c.2250G>C	XP_011536933.1:p.Glu750Asp
XM_011538631.2:c.2403G>C	XP_011536933.2:p.Glu801Asp
XM_011538632.1:c.2211G>C	XP_011536934.1:p.Glu737Asp
XM_011538632.2:c.2364G>C	XP_011536934.2:p.Glu788Asp
XM_011538633.1:c.2070G>C	XP_011536935.1:p.Glu690Asp
XM_011538633.2:c.2223G>C	XP_011536935.2:p.Glu741Asp
XM_017019774.1:c.2391G>C	XP_016875263.1:p.Glu797Asp