Canonical Allele Identifier: CA117174

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 4997
• ClinVar RCV Id: RCV000005286 ; RCV000202518
• dbSNP Id: rs121912636
• MyVariant Identifiers: chr12:g.110236580T>A (hg19) ; chr12:g.109798775T>A (hg38)
• PubMed: PMID:19232556 ; PMID:20425821 ; PMID:24830047

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109798775T>A , CM000674.2:g.109798775T>A	GRCh38
NC_000012.11:g.110236580T>A , CM000674.1:g.110236580T>A	GRCh37
NC_000012.10:g.108720963T>A	NCBI36
NG_017090.1:g.39633A>T , LRG_372:g.39633A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.991A>T MANE Select	ENSP00000261740.2:p.Ile331Phe
ENST00000418703.7:c.991A>T	ENSP00000406191.2:p.Ile331Phe
ENST00000674908.1:c.*78A>T	ENSP00000502012.1:n.*78A>T
ENST00000675533.1:n.1022A>T
ENST00000675670.1:c.991A>T	ENSP00000502135.1:p.Ile331Phe
ENST00000676376.1:n.1022A>T
ENST00000261740.6:c.991A>T	ENSP00000261740.2:p.Ile331Phe
ENST00000418703.6:c.991A>T	ENSP00000406191.2:p.Ile331Phe
ENST00000536838.1:c.889A>T	ENSP00000444336.1:p.Ile297Phe
ENST00000537083.5:c.991A>T	ENSP00000442738.1:p.Ile331Phe
ENST00000538125.5:c.991A>T	ENSP00000437449.1:p.Ile331Phe
ENST00000541794.5:c.850A>T	ENSP00000442167.1:p.Ile284Phe
ENST00000544971.5:c.850A>T	ENSP00000443611.1:p.Ile284Phe
NM_001177428.1:c.850A>T	NP_001170899.1:p.Ile284Phe
NM_001177431.1:c.889A>T	NP_001170902.1:p.Ile297Phe
NM_001177433.1:c.850A>T	NP_001170904.1:p.Ile284Phe
NM_021625.4:c.991A>T , LRG_372t1:c.991A>T	NP_067638.3:p.Ile331Phe
NM_147204.2:c.991A>T	NP_671737.1:p.Ile331Phe
XM_005253918.1:c.991A>T	XP_005253975.1:p.Ile331Phe
XM_011538630.1:c.991A>T	XP_011536932.1:p.Ile331Phe
XM_011538631.1:c.850A>T	XP_011536933.1:p.Ile284Phe
XM_011538632.1:c.991A>T	XP_011536934.1:p.Ile331Phe
XM_011538633.1:c.850A>T	XP_011536935.1:p.Ile284Phe
XM_011538634.1:c.991A>T	XP_011536936.1:p.Ile331Phe
XM_011538635.1:c.1144A>T	XP_011536937.1:p.Ile382Phe
XM_011538636.1:c.1144A>T	XP_011536938.1:p.Ile382Phe
XM_011538630.2:c.1144A>T	XP_011536932.2:p.Ile382Phe
XM_011538631.2:c.1003A>T	XP_011536933.2:p.Ile335Phe
XM_011538632.2:c.1144A>T	XP_011536934.2:p.Ile382Phe
XM_011538633.2:c.1003A>T	XP_011536935.2:p.Ile335Phe
XM_011538634.2:c.1144A>T	XP_011536936.2:p.Ile382Phe
XM_011538635.2:c.1144A>T	XP_011536937.1:p.Ile382Phe
XM_017019774.1:c.991A>T	XP_016875263.1:p.Ile331Phe
NM_021625.5:c.991A>T MANE Select	NP_067638.3:p.Ile331Phe