Canonical Allele Identifier: CA6780015

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109788466G>A , CM000674.2:g.109788466G>A	GRCh38
NC_000012.11:g.110226271G>A , CM000674.1:g.110226271G>A	GRCh37
NC_000012.10:g.108710654G>A	NCBI36
NG_017090.1:g.49942C>T , LRG_372:g.49942C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021625.5:c.2142C>T MANE Select	NP_067638.3:p.Leu714=
ENST00000261740.7:c.2142C>T MANE Select	ENSP00000261740.2:p.Leu714=
NM_001177428.1:c.2001C>T	NP_001170899.1:p.Leu667=
NM_001177431.1:c.2040C>T	NP_001170902.1:p.Leu680=
NM_001177433.1:c.1821C>T	NP_001170904.1:p.Leu607=
NM_021625.4:c.2142C>T , LRG_372t1:c.2142C>T	NP_067638.3:p.Leu714=
NM_147204.2:c.1962C>T	NP_671737.1:p.Leu654=
ENST00000261740.6:c.2142C>T	ENSP00000261740.2:p.Leu714=
ENST00000418703.6:c.2142C>T	ENSP00000406191.2:p.Leu714=
ENST00000418703.7:c.2142C>T	ENSP00000406191.2:p.Leu714=
ENST00000536838.1:c.2040C>T	ENSP00000444336.1:p.Leu680=
ENST00000537083.5:c.1962C>T	ENSP00000442738.1:p.Leu654=
ENST00000538125.5:c.*525C>T	ENSP00000437449.1:n.*525C>T
ENST00000541794.5:c.2001C>T	ENSP00000442167.1:p.Leu667=
ENST00000544971.5:c.1821C>T	ENSP00000443611.1:p.Leu607=
ENST00000674908.1:c.*1229C>T	ENSP00000502012.1:n.*1229C>T
ENST00000675533.1:n.2173C>T
ENST00000675670.1:c.2142C>T	ENSP00000502135.1:p.Leu714=
XM_005253918.1:c.2142C>T	XP_005253975.1:p.Leu714=
XM_011538630.1:c.2142C>T	XP_011536932.1:p.Leu714=
XM_011538630.2:c.2295C>T	XP_011536932.2:p.Leu765=
XM_011538631.1:c.2001C>T	XP_011536933.1:p.Leu667=
XM_011538631.2:c.2154C>T	XP_011536933.2:p.Leu718=
XM_011538632.1:c.1962C>T	XP_011536934.1:p.Leu654=
XM_011538632.2:c.2115C>T	XP_011536934.2:p.Leu705=
XM_011538633.1:c.1821C>T	XP_011536935.1:p.Leu607=
XM_011538633.2:c.1974C>T	XP_011536935.2:p.Leu658=
XM_011538634.1:c.2142C>T	XP_011536936.1:p.Leu714=
XM_011538634.2:c.2295C>T	XP_011536936.2:p.Leu765=
XM_017019774.1:c.2142C>T	XP_016875263.1:p.Leu714=