Canonical Allele Identifier: CA117164

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 4992
• ClinVar RCV Id: RCV000005280 ; RCV000202519 ; RCV001269634 ; RCV003505079
• dbSNP Id: rs121912632
• gnomAD v4: 12-109792407-C-T
• MyVariant Identifiers: chr12:g.110230212C>T (hg19) ; chr12:g.109792407C>T (hg38)
• PubMed: PMID:18587396 ; PMID:24830047

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109792407C>T , CM000674.2:g.109792407C>T	GRCh38
NC_000012.11:g.110230212C>T , CM000674.1:g.110230212C>T	GRCh37
NC_000012.10:g.108714595C>T	NCBI36
NG_017090.1:g.46001G>A , LRG_372:g.46001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.1847G>A MANE Select	ENSP00000261740.2:p.Arg616Gln
ENST00000418703.7:c.1847G>A	ENSP00000406191.2:p.Arg616Gln
ENST00000674908.1:c.*934G>A	ENSP00000502012.1:n.*934G>A
ENST00000675533.1:n.1878G>A
ENST00000675670.1:c.1847G>A	ENSP00000502135.1:p.Arg616Gln
ENST00000676376.1:n.1878G>A
ENST00000261740.6:c.1847G>A	ENSP00000261740.2:p.Arg616Gln
ENST00000418703.6:c.1847G>A	ENSP00000406191.2:p.Arg616Gln
ENST00000536838.1:c.1745G>A	ENSP00000444336.1:p.Arg582Gln
ENST00000537083.5:c.1667G>A	ENSP00000442738.1:p.Arg556Gln
ENST00000538125.5:c.*230G>A	ENSP00000437449.1:n.*230G>A
ENST00000541794.5:c.1706G>A	ENSP00000442167.1:p.Arg569Gln
ENST00000544971.5:c.1526G>A	ENSP00000443611.1:p.Arg509Gln
NM_001177428.1:c.1706G>A	NP_001170899.1:p.Arg569Gln
NM_001177431.1:c.1745G>A	NP_001170902.1:p.Arg582Gln
NM_001177433.1:c.1526G>A	NP_001170904.1:p.Arg509Gln
NM_021625.4:c.1847G>A , LRG_372t1:c.1847G>A	NP_067638.3:p.Arg616Gln
NM_147204.2:c.1667G>A	NP_671737.1:p.Arg556Gln
XM_005253918.1:c.1847G>A	XP_005253975.1:p.Arg616Gln
XM_011538630.1:c.1847G>A	XP_011536932.1:p.Arg616Gln
XM_011538631.1:c.1706G>A	XP_011536933.1:p.Arg569Gln
XM_011538632.1:c.1667G>A	XP_011536934.1:p.Arg556Gln
XM_011538633.1:c.1526G>A	XP_011536935.1:p.Arg509Gln
XM_011538634.1:c.1847G>A	XP_011536936.1:p.Arg616Gln
XM_011538635.1:c.2000G>A	XP_011536937.1:p.Arg667Gln
XM_011538630.2:c.2000G>A	XP_011536932.2:p.Arg667Gln
XM_011538631.2:c.1859G>A	XP_011536933.2:p.Arg620Gln
XM_011538632.2:c.1820G>A	XP_011536934.2:p.Arg607Gln
XM_011538633.2:c.1679G>A	XP_011536935.2:p.Arg560Gln
XM_011538634.2:c.2000G>A	XP_011536936.2:p.Arg667Gln
XM_011538635.2:c.2000G>A	XP_011536937.1:p.Arg667Gln
XM_017019774.1:c.1847G>A	XP_016875263.1:p.Arg616Gln
NM_021625.5:c.1847G>A MANE Select	NP_067638.3:p.Arg616Gln