Canonical Allele Identifier: CA2062559419

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109786827G= , CM000674.2:g.109786827G=	GRCh38
NC_000012.11:g.110224632G= , CM000674.1:g.110224632G=	GRCh37
NC_000012.10:g.108709015G=	NCBI36
NG_017090.1:g.51581C= , LRG_372:g.51581C=

Transcript Alleles

HGVS	Amino-acid Change
NM_021625.5:c.2219C= MANE Select	NP_067638.3:p.Thr740=
ENST00000261740.7:c.2219C= MANE Select	ENSP00000261740.2:p.Thr740=
NM_001177428.1:c.2078C=	NP_001170899.1:p.Thr693=
NM_001177431.1:c.2117C=	NP_001170902.1:p.Thr706=
NM_001177433.1:c.1898C=	NP_001170904.1:p.Thr633=
NM_021625.4:c.2219C= , LRG_372t1:c.2219C=	NP_067638.3:p.Thr740=
NM_147204.2:c.2039C=	NP_671737.1:p.Thr680=
ENST00000261740.6:c.2219C=	ENSP00000261740.2:p.Thr740=
ENST00000418703.6:c.2219C=	ENSP00000406191.2:p.Thr740=
ENST00000418703.7:c.2219C=	ENSP00000406191.2:p.Thr740=
ENST00000536838.1:c.2117C=	ENSP00000444336.1:p.Thr706=
ENST00000537083.5:c.2039C=	ENSP00000442738.1:p.Thr680=
ENST00000538125.5:c.*602C=	ENSP00000437449.1:n.*602C=
ENST00000541794.5:c.2078C=	ENSP00000442167.1:p.Thr693=
ENST00000544971.5:c.1898C=	ENSP00000443611.1:p.Thr633=
ENST00000674908.1:c.*1306C=	ENSP00000502012.1:n.*1306C=
ENST00000675533.1:n.2309C=
ENST00000675670.1:c.2219C=	ENSP00000502135.1:p.Thr740=
XM_005253918.1:c.2219C=	XP_005253975.1:p.Thr740=
XM_011538630.1:c.2219C=	XP_011536932.1:p.Thr740=
XM_011538630.2:c.2372C=	XP_011536932.2:p.Thr791=
XM_011538631.1:c.2078C=	XP_011536933.1:p.Thr693=
XM_011538631.2:c.2231C=	XP_011536933.2:p.Thr744=
XM_011538632.1:c.2039C=	XP_011536934.1:p.Thr680=
XM_011538632.2:c.2192C=	XP_011536934.2:p.Thr731=
XM_011538633.1:c.1898C=	XP_011536935.1:p.Thr633=
XM_011538633.2:c.2051C=	XP_011536935.2:p.Thr684=
XM_011538634.1:c.*49C=	XP_011536936.1:n.*49C=
XM_011538634.2:c.*49C=	XP_011536936.2:n.*49C=
XM_017019774.1:c.2219C=	XP_016875263.1:p.Thr740=