Canonical Allele Identifier: CA117193
Gene: TRPV4 HGNC NCBI

Linked Data

ClinVar Variation Id: 18434
ClinVar RCV Id: RCV000005302 RCV000202563 RCV000805229
dbSNP Id: rs267607148
MyVariant Identifiers: chr12:g.110238444C>T (hg19) chr12:g.109800639C>T (hg38)
PubMed: PMID:20577006 PMID:24830047
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109800639C>T , CM000674.2:g.109800639C>T GRCh38
NC_000012.11:g.110238444C>T , CM000674.1:g.110238444C>T GRCh37
NC_000012.10:g.108722827C>T NCBI36
NG_017090.1:g.37769G>A , LRG_372:g.37769G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261740.7:c.832G>A MANE Select ENSP00000261740.2:p.Glu278Lys
ENST00000418703.7:c.832G>A ENSP00000406191.2:p.Glu278Lys
ENST00000674908.1:c.861G>A ENSP00000502012.1:p.Met287Ile
ENST00000675533.1:n.863G>A
ENST00000675670.1:c.832G>A ENSP00000502135.1:p.Glu278Lys
ENST00000676376.1:n.863G>A
ENST00000261740.6:c.832G>A ENSP00000261740.2:p.Glu278Lys
ENST00000418703.6:c.832G>A ENSP00000406191.2:p.Glu278Lys
ENST00000536838.1:c.730G>A ENSP00000444336.1:p.Glu244Lys
ENST00000537083.5:c.832G>A ENSP00000442738.1:p.Glu278Lys
ENST00000538125.5:c.832G>A ENSP00000437449.1:p.Glu278Lys
ENST00000541794.5:c.713-1727G>A ENSP00000442167.1:n.713-1727G>A
ENST00000544971.5:c.713-1727G>A ENSP00000443611.1:n.713-1727G>A
NM_001177428.1:c.713-1727G>A NP_001170899.1:n.713-1727G>A
NM_001177431.1:c.730G>A NP_001170902.1:p.Glu244Lys
NM_001177433.1:c.713-1727G>A NP_001170904.1:n.713-1727G>A
NM_021625.4:c.832G>A , LRG_372t1:c.832G>A NP_067638.3:p.Glu278Lys
NM_147204.2:c.832G>A NP_671737.1:p.Glu278Lys
XM_005253918.1:c.832G>A XP_005253975.1:p.Glu278Lys
XM_011538630.1:c.832G>A XP_011536932.1:p.Glu278Lys
XM_011538631.1:c.713-1727G>A XP_011536933.1:n.713-1727G>A
XM_011538632.1:c.832G>A XP_011536934.1:p.Glu278Lys
XM_011538633.1:c.713-1727G>A XP_011536935.1:n.713-1727G>A
XM_011538634.1:c.832G>A XP_011536936.1:p.Glu278Lys
XM_011538635.1:c.985G>A XP_011536937.1:p.Glu329Lys
XM_011538636.1:c.985G>A XP_011536938.1:p.Glu329Lys
XM_011538630.2:c.985G>A XP_011536932.2:p.Glu329Lys
XM_011538631.2:c.866-1727G>A XP_011536933.2:n.866-1727G>A
XM_011538632.2:c.985G>A XP_011536934.2:p.Glu329Lys
XM_011538633.2:c.866-1727G>A XP_011536935.2:n.866-1727G>A
XM_011538634.2:c.985G>A XP_011536936.2:p.Glu329Lys
XM_011538635.2:c.985G>A XP_011536937.1:p.Glu329Lys
XM_017019774.1:c.832G>A XP_016875263.1:p.Glu278Lys
NM_021625.5:c.832G>A MANE Select NP_067638.3:p.Glu278Lys
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