Canonical Allele Identifier: CA129239
Gene: TRPV4 HGNC NCBI

Linked Data

ClinVar Variation Id: 30468
dbSNP Id: rs267607150

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109792671T>C , CM000674.2:g.109792671T>C GRCh38
NC_000012.11:g.110230476T>C , CM000674.1:g.110230476T>C GRCh37
NC_000012.10:g.108714859T>C NCBI36
NG_017090.1:g.45737A>G , LRG_372:g.45737A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261740.7:c.1805A>G MANE Select ENSP00000261740.2:p.Tyr602Cys
ENST00000418703.7:c.1805A>G ENSP00000406191.2:p.Tyr602Cys
ENST00000674908.1:c.*892A>G ENSP00000502012.1:n.*892A>G
ENST00000675533.1:n.1836A>G
ENST00000675670.1:c.1805A>G ENSP00000502135.1:p.Tyr602Cys
ENST00000676376.1:n.1836A>G
ENST00000261740.6:c.1805A>G ENSP00000261740.2:p.Tyr602Cys
ENST00000418703.6:c.1805A>G ENSP00000406191.2:p.Tyr602Cys
ENST00000536838.1:c.1703A>G ENSP00000444336.1:p.Tyr568Cys
ENST00000537083.5:c.1625A>G ENSP00000442738.1:p.Tyr542Cys
ENST00000538125.5:c.*188A>G ENSP00000437449.1:n.*188A>G
ENST00000541794.5:c.1664A>G ENSP00000442167.1:p.Tyr555Cys
ENST00000544971.5:c.1484A>G ENSP00000443611.1:p.Tyr495Cys
NM_001177428.1:c.1664A>G NP_001170899.1:p.Tyr555Cys
NM_001177431.1:c.1703A>G NP_001170902.1:p.Tyr568Cys
NM_001177433.1:c.1484A>G NP_001170904.1:p.Tyr495Cys
NM_021625.4:c.1805A>G , LRG_372t1:c.1805A>G NP_067638.3:p.Tyr602Cys
NM_147204.2:c.1625A>G NP_671737.1:p.Tyr542Cys
XM_005253918.1:c.1805A>G XP_005253975.1:p.Tyr602Cys
XM_011538630.1:c.1805A>G XP_011536932.1:p.Tyr602Cys
XM_011538631.1:c.1664A>G XP_011536933.1:p.Tyr555Cys
XM_011538632.1:c.1625A>G XP_011536934.1:p.Tyr542Cys
XM_011538633.1:c.1484A>G XP_011536935.1:p.Tyr495Cys
XM_011538634.1:c.1805A>G XP_011536936.1:p.Tyr602Cys
XM_011538635.1:c.1958A>G XP_011536937.1:p.Tyr653Cys
XM_011538630.2:c.1958A>G XP_011536932.2:p.Tyr653Cys
XM_011538631.2:c.1817A>G XP_011536933.2:p.Tyr606Cys
XM_011538632.2:c.1778A>G XP_011536934.2:p.Tyr593Cys
XM_011538633.2:c.1637A>G XP_011536935.2:p.Tyr546Cys
XM_011538634.2:c.1958A>G XP_011536936.2:p.Tyr653Cys
XM_011538635.2:c.1958A>G XP_011536937.1:p.Tyr653Cys
XM_017019774.1:c.1805A>G XP_016875263.1:p.Tyr602Cys
NM_021625.5:c.1805A>G MANE Select NP_067638.3:p.Tyr602Cys