Canonical Allele Identifier: CA117170
Gene: TRPV4 HGNC NCBI

Linked Data

ClinVar Variation Id: 4995
ClinVar RCV Id: RCV000005284 RCV000202481
dbSNP Id: rs121912634
MyVariant Identifiers: chr12:g.110236573T>C (hg19) chr12:g.109798768T>C (hg38)
PubMed: PMID:19232556 PMID:24830047
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109798768T>C , CM000674.2:g.109798768T>C GRCh38
NC_000012.11:g.110236573T>C , CM000674.1:g.110236573T>C GRCh37
NC_000012.10:g.108720956T>C NCBI36
NG_017090.1:g.39640A>G , LRG_372:g.39640A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261740.7:c.998A>G MANE Select ENSP00000261740.2:p.Asp333Gly
ENST00000418703.7:c.998A>G ENSP00000406191.2:p.Asp333Gly
ENST00000674908.1:c.*85A>G ENSP00000502012.1:n.*85A>G
ENST00000675533.1:n.1029A>G
ENST00000675670.1:c.998A>G ENSP00000502135.1:p.Asp333Gly
ENST00000676376.1:n.1029A>G
ENST00000261740.6:c.998A>G ENSP00000261740.2:p.Asp333Gly
ENST00000418703.6:c.998A>G ENSP00000406191.2:p.Asp333Gly
ENST00000536838.1:c.896A>G ENSP00000444336.1:p.Asp299Gly
ENST00000537083.5:c.998A>G ENSP00000442738.1:p.Asp333Gly
ENST00000538125.5:c.998A>G ENSP00000437449.1:p.Asp333Gly
ENST00000541794.5:c.857A>G ENSP00000442167.1:p.Asp286Gly
ENST00000544971.5:c.857A>G ENSP00000443611.1:p.Asp286Gly
NM_001177428.1:c.857A>G NP_001170899.1:p.Asp286Gly
NM_001177431.1:c.896A>G NP_001170902.1:p.Asp299Gly
NM_001177433.1:c.857A>G NP_001170904.1:p.Asp286Gly
NM_021625.4:c.998A>G , LRG_372t1:c.998A>G NP_067638.3:p.Asp333Gly
NM_147204.2:c.998A>G NP_671737.1:p.Asp333Gly
XM_005253918.1:c.998A>G XP_005253975.1:p.Asp333Gly
XM_011538630.1:c.998A>G XP_011536932.1:p.Asp333Gly
XM_011538631.1:c.857A>G XP_011536933.1:p.Asp286Gly
XM_011538632.1:c.998A>G XP_011536934.1:p.Asp333Gly
XM_011538633.1:c.857A>G XP_011536935.1:p.Asp286Gly
XM_011538634.1:c.998A>G XP_011536936.1:p.Asp333Gly
XM_011538635.1:c.1151A>G XP_011536937.1:p.Asp384Gly
XM_011538636.1:c.1151A>G XP_011536938.1:p.Asp384Gly
XM_011538630.2:c.1151A>G XP_011536932.2:p.Asp384Gly
XM_011538631.2:c.1010A>G XP_011536933.2:p.Asp337Gly
XM_011538632.2:c.1151A>G XP_011536934.2:p.Asp384Gly
XM_011538633.2:c.1010A>G XP_011536935.2:p.Asp337Gly
XM_011538634.2:c.1151A>G XP_011536936.2:p.Asp384Gly
XM_011538635.2:c.1151A>G XP_011536937.1:p.Asp384Gly
XM_017019774.1:c.998A>G XP_016875263.1:p.Asp333Gly
NM_021625.5:c.998A>G MANE Select NP_067638.3:p.Asp333Gly
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