Canonical Allele Identifier: CA16619425
Gene: TRPV4 HGNC NCBI

Linked Data

ClinVar Variation Id: 422072
ClinVar RCV Id: RCV000478473
dbSNP Id: rs1064795536

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109784373T>C , CM000674.2:g.109784373T>C GRCh38
NC_000012.11:g.110222178T>C , CM000674.1:g.110222178T>C GRCh37
NC_000012.10:g.108706561T>C NCBI36
NG_017090.1:g.54035A>G , LRG_372:g.54035A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261740.7:c.2401A>G MANE Select ENSP00000261740.2:p.Lys801Glu
ENST00000418703.7:c.2401A>G ENSP00000406191.2:p.Lys801Glu
ENST00000674908.1:c.*1488A>G ENSP00000502012.1:n.*1488A>G
ENST00000675670.1:c.2401A>G ENSP00000502135.1:p.Lys801Glu
ENST00000261740.6:c.2401A>G ENSP00000261740.2:p.Lys801Glu
ENST00000418703.6:c.2401A>G ENSP00000406191.2:p.Lys801Glu
ENST00000536838.1:c.2299A>G ENSP00000444336.1:p.Lys767Glu
ENST00000537083.5:c.2221A>G ENSP00000442738.1:p.Lys741Glu
ENST00000538125.5:c.*784A>G ENSP00000437449.1:n.*784A>G
ENST00000541794.5:c.2260A>G ENSP00000442167.1:p.Lys754Glu
ENST00000544971.5:c.2080A>G ENSP00000443611.1:p.Lys694Glu
NM_001177428.1:c.2260A>G NP_001170899.1:p.Lys754Glu
NM_001177431.1:c.2299A>G NP_001170902.1:p.Lys767Glu
NM_001177433.1:c.2080A>G NP_001170904.1:p.Lys694Glu
NM_021625.4:c.2401A>G , LRG_372t1:c.2401A>G NP_067638.3:p.Lys801Glu
NM_147204.2:c.2221A>G NP_671737.1:p.Lys741Glu
XM_005253918.1:c.2401A>G XP_005253975.1:p.Lys801Glu
XM_011538630.1:c.2401A>G XP_011536932.1:p.Lys801Glu
XM_011538631.1:c.2260A>G XP_011536933.1:p.Lys754Glu
XM_011538632.1:c.2221A>G XP_011536934.1:p.Lys741Glu
XM_011538633.1:c.2080A>G XP_011536935.1:p.Lys694Glu
XM_011538630.2:c.2554A>G XP_011536932.2:p.Lys852Glu
XM_011538631.2:c.2413A>G XP_011536933.2:p.Lys805Glu
XM_011538632.2:c.2374A>G XP_011536934.2:p.Lys792Glu
XM_011538633.2:c.2233A>G XP_011536935.2:p.Lys745Glu
XM_017019774.1:c.2401A>G XP_016875263.1:p.Lys801Glu
NM_021625.5:c.2401A>G MANE Select NP_067638.3:p.Lys801Glu