Canonical Allele Identifier: CA481724076

Gene: TRPV4

Linked Data

• COSMIC: COSM3455896
• MyVariant Identifiers: chr12:g.110222242C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109784437C>T , CM000674.2:g.109784437C>T	GRCh38
NC_000012.11:g.110222242C>T , CM000674.1:g.110222242C>T	GRCh37
NC_000012.10:g.108706625C>T	NCBI36
NG_017090.1:g.53971G>A , LRG_372:g.53971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.2337G>A MANE Select	ENSP00000261740.2:p.Arg779=
ENST00000418703.7:c.2337G>A	ENSP00000406191.2:p.Arg779=
ENST00000674908.1:c.*1424G>A	ENSP00000502012.1:n.*1424G>A
ENST00000675670.1:c.2337G>A	ENSP00000502135.1:p.Arg779=
ENST00000261740.6:c.2337G>A	ENSP00000261740.2:p.Arg779=
ENST00000418703.6:c.2337G>A	ENSP00000406191.2:p.Arg779=
ENST00000536838.1:c.2235G>A	ENSP00000444336.1:p.Arg745=
ENST00000537083.5:c.2157G>A	ENSP00000442738.1:p.Arg719=
ENST00000538125.5:c.*720G>A	ENSP00000437449.1:n.*720G>A
ENST00000541794.5:c.2196G>A	ENSP00000442167.1:p.Arg732=
ENST00000544971.5:c.2016G>A	ENSP00000443611.1:p.Arg672=
NM_001177428.1:c.2196G>A	NP_001170899.1:p.Arg732=
NM_001177431.1:c.2235G>A	NP_001170902.1:p.Arg745=
NM_001177433.1:c.2016G>A	NP_001170904.1:p.Arg672=
NM_021625.4:c.2337G>A , LRG_372t1:c.2337G>A	NP_067638.3:p.Arg779=
NM_147204.2:c.2157G>A	NP_671737.1:p.Arg719=
XM_005253918.1:c.2337G>A	XP_005253975.1:p.Arg779=
XM_011538630.1:c.2337G>A	XP_011536932.1:p.Arg779=
XM_011538631.1:c.2196G>A	XP_011536933.1:p.Arg732=
XM_011538632.1:c.2157G>A	XP_011536934.1:p.Arg719=
XM_011538633.1:c.2016G>A	XP_011536935.1:p.Arg672=
XM_011538630.2:c.2490G>A	XP_011536932.2:p.Arg830=
XM_011538631.2:c.2349G>A	XP_011536933.2:p.Arg783=
XM_011538632.2:c.2310G>A	XP_011536934.2:p.Arg770=
XM_011538633.2:c.2169G>A	XP_011536935.2:p.Arg723=
XM_017019774.1:c.2337G>A	XP_016875263.1:p.Arg779=
NM_021625.5:c.2337G>A MANE Select	NP_067638.3:p.Arg779=