Canonical Allele Identifier: CA6780483
Gene: TRPV4 HGNC NCBI

Linked Data

ClinVar Variation Id: 517843
dbSNP Id: rs371280831

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109803052C>T , CM000674.2:g.109803052C>T GRCh38
NC_000012.11:g.110240857C>T , CM000674.1:g.110240857C>T GRCh37
NC_000012.10:g.108725240C>T NCBI36
NG_017090.1:g.35356G>A , LRG_372:g.35356G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261740.7:c.651G>A MANE Select ENSP00000261740.2:p.Ala217=
ENST00000418703.7:c.651G>A ENSP00000406191.2:p.Ala217=
ENST00000674908.1:c.651G>A ENSP00000502012.1:p.Ala217=
ENST00000675533.1:n.682G>A
ENST00000675670.1:c.651G>A ENSP00000502135.1:p.Ala217=
ENST00000676376.1:n.682G>A
ENST00000261740.6:c.651G>A ENSP00000261740.2:p.Ala217=
ENST00000418703.6:c.651G>A ENSP00000406191.2:p.Ala217=
ENST00000536838.1:c.549G>A ENSP00000444336.1:p.Ala183=
ENST00000537083.5:c.651G>A ENSP00000442738.1:p.Ala217=
ENST00000538125.5:c.651G>A ENSP00000437449.1:p.Ala217=
ENST00000541794.5:c.651G>A ENSP00000442167.1:p.Ala217=
ENST00000544971.5:c.651G>A ENSP00000443611.1:p.Ala217=
NM_001177428.1:c.651G>A NP_001170899.1:p.Ala217=
NM_001177431.1:c.549G>A NP_001170902.1:p.Ala183=
NM_001177433.1:c.651G>A NP_001170904.1:p.Ala217=
NM_021625.4:c.651G>A , LRG_372t1:c.651G>A NP_067638.3:p.Ala217=
NM_147204.2:c.651G>A NP_671737.1:p.Ala217=
XM_005253918.1:c.651G>A XP_005253975.1:p.Ala217=
XM_011538630.1:c.651G>A XP_011536932.1:p.Ala217=
XM_011538631.1:c.651G>A XP_011536933.1:p.Ala217=
XM_011538632.1:c.651G>A XP_011536934.1:p.Ala217=
XM_011538633.1:c.651G>A XP_011536935.1:p.Ala217=
XM_011538634.1:c.651G>A XP_011536936.1:p.Ala217=
XM_011538635.1:c.804G>A XP_011536937.1:p.Ala268=
XM_011538636.1:c.804G>A XP_011536938.1:p.Ala268=
XM_011538630.2:c.804G>A XP_011536932.2:p.Ala268=
XM_011538631.2:c.804G>A XP_011536933.2:p.Ala268=
XM_011538632.2:c.804G>A XP_011536934.2:p.Ala268=
XM_011538633.2:c.804G>A XP_011536935.2:p.Ala268=
XM_011538634.2:c.804G>A XP_011536936.2:p.Ala268=
XM_011538635.2:c.804G>A XP_011536937.1:p.Ala268=
XM_017019774.1:c.651G>A XP_016875263.1:p.Ala217=
NM_021625.5:c.651G>A MANE Select NP_067638.3:p.Ala217=