Canonical Allele Identifier: CA6780113
Gene: TRPV4 HGNC NCBI

Linked Data

ClinVar Variation Id: 521669
dbSNP Id: rs763889344

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109792776T>A , CM000674.2:g.109792776T>A GRCh38
NC_000012.11:g.110230581T>A , CM000674.1:g.110230581T>A GRCh37
NC_000012.10:g.108714964T>A NCBI36
NG_017090.1:g.45632A>T , LRG_372:g.45632A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261740.7:c.1700A>T MANE Select ENSP00000261740.2:p.Tyr567Phe
ENST00000418703.7:c.1700A>T ENSP00000406191.2:p.Tyr567Phe
ENST00000674908.1:c.*787A>T ENSP00000502012.1:n.*787A>T
ENST00000675533.1:n.1731A>T
ENST00000675670.1:c.1700A>T ENSP00000502135.1:p.Tyr567Phe
ENST00000676376.1:n.1731A>T
ENST00000261740.6:c.1700A>T ENSP00000261740.2:p.Tyr567Phe
ENST00000418703.6:c.1700A>T ENSP00000406191.2:p.Tyr567Phe
ENST00000536838.1:c.1598A>T ENSP00000444336.1:p.Tyr533Phe
ENST00000537083.5:c.1520A>T ENSP00000442738.1:p.Tyr507Phe
ENST00000538125.5:c.*83A>T ENSP00000437449.1:n.*83A>T
ENST00000541794.5:c.1559A>T ENSP00000442167.1:p.Tyr520Phe
ENST00000544971.5:c.1379A>T ENSP00000443611.1:p.Tyr460Phe
NM_001177428.1:c.1559A>T NP_001170899.1:p.Tyr520Phe
NM_001177431.1:c.1598A>T NP_001170902.1:p.Tyr533Phe
NM_001177433.1:c.1379A>T NP_001170904.1:p.Tyr460Phe
NM_021625.4:c.1700A>T , LRG_372t1:c.1700A>T NP_067638.3:p.Tyr567Phe
NM_147204.2:c.1520A>T NP_671737.1:p.Tyr507Phe
XM_005253918.1:c.1700A>T XP_005253975.1:p.Tyr567Phe
XM_011538630.1:c.1700A>T XP_011536932.1:p.Tyr567Phe
XM_011538631.1:c.1559A>T XP_011536933.1:p.Tyr520Phe
XM_011538632.1:c.1520A>T XP_011536934.1:p.Tyr507Phe
XM_011538633.1:c.1379A>T XP_011536935.1:p.Tyr460Phe
XM_011538634.1:c.1700A>T XP_011536936.1:p.Tyr567Phe
XM_011538635.1:c.1853A>T XP_011536937.1:p.Tyr618Phe
XM_011538636.1:c.1812-9A>T XP_011536938.1:n.1812-9A>T
XM_011538630.2:c.1853A>T XP_011536932.2:p.Tyr618Phe
XM_011538631.2:c.1712A>T XP_011536933.2:p.Tyr571Phe
XM_011538632.2:c.1673A>T XP_011536934.2:p.Tyr558Phe
XM_011538633.2:c.1532A>T XP_011536935.2:p.Tyr511Phe
XM_011538634.2:c.1853A>T XP_011536936.2:p.Tyr618Phe
XM_011538635.2:c.1853A>T XP_011536937.1:p.Tyr618Phe
XM_017019774.1:c.1700A>T XP_016875263.1:p.Tyr567Phe
NM_021625.5:c.1700A>T MANE Select NP_067638.3:p.Tyr567Phe