Canonical Allele Identifier: CA117172

Gene: TRPV4

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109788462C>A , CM000674.2:g.109788462C>A	GRCh38
NC_000012.11:g.110226267C>A , CM000674.1:g.110226267C>A	GRCh37
NC_000012.10:g.108710650C>A	NCBI36
NG_017090.1:g.49946G>T , LRG_372:g.49946G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.2146G>T MANE Select	ENSP00000261740.2:p.Ala716Ser
ENST00000418703.7:c.2146G>T	ENSP00000406191.2:p.Ala716Ser
ENST00000674908.1:c.*1233G>T	ENSP00000502012.1:n.*1233G>T
ENST00000675533.1:n.2177G>T
ENST00000675670.1:c.2146G>T	ENSP00000502135.1:p.Ala716Ser
ENST00000261740.6:c.2146G>T	ENSP00000261740.2:p.Ala716Ser
ENST00000418703.6:c.2146G>T	ENSP00000406191.2:p.Ala716Ser
ENST00000536838.1:c.2044G>T	ENSP00000444336.1:p.Ala682Ser
ENST00000537083.5:c.1966G>T	ENSP00000442738.1:p.Ala656Ser
ENST00000538125.5:c.*529G>T	ENSP00000437449.1:n.*529G>T
ENST00000541794.5:c.2005G>T	ENSP00000442167.1:p.Ala669Ser
ENST00000544971.5:c.1825G>T	ENSP00000443611.1:p.Ala609Ser
NM_001177428.1:c.2005G>T	NP_001170899.1:p.Ala669Ser
NM_001177431.1:c.2044G>T	NP_001170902.1:p.Ala682Ser
NM_001177433.1:c.1825G>T	NP_001170904.1:p.Ala609Ser
NM_021625.4:c.2146G>T , LRG_372t1:c.2146G>T	NP_067638.3:p.Ala716Ser
NM_147204.2:c.1966G>T	NP_671737.1:p.Ala656Ser
XM_005253918.1:c.2146G>T	XP_005253975.1:p.Ala716Ser
XM_011538630.1:c.2146G>T	XP_011536932.1:p.Ala716Ser
XM_011538631.1:c.2005G>T	XP_011536933.1:p.Ala669Ser
XM_011538632.1:c.1966G>T	XP_011536934.1:p.Ala656Ser
XM_011538633.1:c.1825G>T	XP_011536935.1:p.Ala609Ser
XM_011538634.1:c.2146G>T	XP_011536936.1:p.Ala716Ser
XM_011538630.2:c.2299G>T	XP_011536932.2:p.Ala767Ser
XM_011538631.2:c.2158G>T	XP_011536933.2:p.Ala720Ser
XM_011538632.2:c.2119G>T	XP_011536934.2:p.Ala707Ser
XM_011538633.2:c.1978G>T	XP_011536935.2:p.Ala660Ser
XM_011538634.2:c.2299G>T	XP_011536936.2:p.Ala767Ser
XM_017019774.1:c.2146G>T	XP_016875263.1:p.Ala716Ser
NM_021625.5:c.2146G>T MANE Select	NP_067638.3:p.Ala716Ser