Canonical Allele Identifier: CA2062564273

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109792403G= , CM000674.2:g.109792403G=	GRCh38
NC_000012.11:g.110230208G= , CM000674.1:g.110230208G=	GRCh37
NC_000012.10:g.108714591G=	NCBI36
NG_017090.1:g.46005C= , LRG_372:g.46005C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000261740.7:c.1851C= MANE Select	ENSP00000261740.2:p.Phe617=
ENST00000418703.7:c.1851C=	ENSP00000406191.2:p.Phe617=
ENST00000674908.1:c.*938C=	ENSP00000502012.1:n.*938C=
ENST00000675533.1:n.1882C=
ENST00000675670.1:c.1851C=	ENSP00000502135.1:p.Phe617=
ENST00000676376.1:n.1882C=
ENST00000261740.6:c.1851C=	ENSP00000261740.2:p.Phe617=
ENST00000418703.6:c.1851C=	ENSP00000406191.2:p.Phe617=
ENST00000536838.1:c.1749C=	ENSP00000444336.1:p.Phe583=
ENST00000537083.5:c.1671C=	ENSP00000442738.1:p.Phe557=
ENST00000538125.5:c.*234C=	ENSP00000437449.1:n.*234C=
ENST00000541794.5:c.1710C=	ENSP00000442167.1:p.Phe570=
ENST00000544971.5:c.1530C=	ENSP00000443611.1:p.Phe510=
NM_001177428.1:c.1710C=	NP_001170899.1:p.Phe570=
NM_001177431.1:c.1749C=	NP_001170902.1:p.Phe583=
NM_001177433.1:c.1530C=	NP_001170904.1:p.Phe510=
NM_021625.4:c.1851C= , LRG_372t1:c.1851C=	NP_067638.3:p.Phe617=
NM_147204.2:c.1671C=	NP_671737.1:p.Phe557=
XM_005253918.1:c.1851C=	XP_005253975.1:p.Phe617=
XM_011538630.1:c.1851C=	XP_011536932.1:p.Phe617=
XM_011538631.1:c.1710C=	XP_011536933.1:p.Phe570=
XM_011538632.1:c.1671C=	XP_011536934.1:p.Phe557=
XM_011538633.1:c.1530C=	XP_011536935.1:p.Phe510=
XM_011538634.1:c.1851C=	XP_011536936.1:p.Phe617=
XM_011538635.1:c.2004C=	XP_011536937.1:p.Phe668=
XM_011538630.2:c.2004C=	XP_011536932.2:p.Phe668=
XM_011538631.2:c.1863C=	XP_011536933.2:p.Phe621=
XM_011538632.2:c.1824C=	XP_011536934.2:p.Phe608=
XM_011538633.2:c.1683C=	XP_011536935.2:p.Phe561=
XM_011538634.2:c.2004C=	XP_011536936.2:p.Phe668=
XM_011538635.2:c.2004C=	XP_011536937.1:p.Phe668=
XM_017019774.1:c.1851C=	XP_016875263.1:p.Phe617=
NM_021625.5:c.1851C= MANE Select	NP_067638.3:p.Phe617=