Canonical Allele Identifier: CA6779964

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109786725C>T , CM000674.2:g.109786725C>T	GRCh38
NC_000012.11:g.110224530C>T , CM000674.1:g.110224530C>T	GRCh37
NC_000012.10:g.108708913C>T	NCBI36
NG_017090.1:g.51683G>A , LRG_372:g.51683G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021625.5:c.2321G>A MANE Select	NP_067638.3:p.Arg774His
ENST00000261740.7:c.2321G>A MANE Select	ENSP00000261740.2:p.Arg774His
NM_001177428.1:c.2180G>A	NP_001170899.1:p.Arg727His
NM_001177431.1:c.2219G>A	NP_001170902.1:p.Arg740His
NM_001177433.1:c.2000G>A	NP_001170904.1:p.Arg667His
NM_021625.4:c.2321G>A , LRG_372t1:c.2321G>A	NP_067638.3:p.Arg774His
NM_147204.2:c.2141G>A	NP_671737.1:p.Arg714His
ENST00000261740.6:c.2321G>A	ENSP00000261740.2:p.Arg774His
ENST00000418703.6:c.2321G>A	ENSP00000406191.2:p.Arg774His
ENST00000418703.7:c.2321G>A	ENSP00000406191.2:p.Arg774His
ENST00000536838.1:c.2219G>A	ENSP00000444336.1:p.Arg740His
ENST00000537083.5:c.2141G>A	ENSP00000442738.1:p.Arg714His
ENST00000538125.5:c.*704G>A	ENSP00000437449.1:n.*704G>A
ENST00000541794.5:c.2180G>A	ENSP00000442167.1:p.Arg727His
ENST00000544971.5:c.2000G>A	ENSP00000443611.1:p.Arg667His
ENST00000674908.1:c.*1408G>A	ENSP00000502012.1:n.*1408G>A
ENST00000675670.1:c.2321G>A	ENSP00000502135.1:p.Arg774His
XM_005253918.1:c.2321G>A	XP_005253975.1:p.Arg774His
XM_011538630.1:c.2321G>A	XP_011536932.1:p.Arg774His
XM_011538630.2:c.2474G>A	XP_011536932.2:p.Arg825His
XM_011538631.1:c.2180G>A	XP_011536933.1:p.Arg727His
XM_011538631.2:c.2333G>A	XP_011536933.2:p.Arg778His
XM_011538632.1:c.2141G>A	XP_011536934.1:p.Arg714His
XM_011538632.2:c.2294G>A	XP_011536934.2:p.Arg765His
XM_011538633.1:c.2000G>A	XP_011536935.1:p.Arg667His
XM_011538633.2:c.2153G>A	XP_011536935.2:p.Arg718His
XM_017019774.1:c.2321G>A	XP_016875263.1:p.Arg774His