Canonical Allele Identifier: CA2062564278
Community Standard Title: NM_021625.5(TRPV4):c.1847G= (p.Arg616=)
Gene: TRPV4 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_021625.5:c.1847G= MANE Select NP_067638.3:p.Arg616=
ENST00000261740.7:c.1847G= MANE Select ENSP00000261740.2:p.Arg616=
NM_001177428.1:c.1706G= NP_001170899.1:p.Arg569=
NM_001177431.1:c.1745G= NP_001170902.1:p.Arg582=
NM_001177433.1:c.1526G= NP_001170904.1:p.Arg509=
NM_021625.4:c.1847G= , LRG_372t1:c.1847G= NP_067638.3:p.Arg616=
NM_147204.2:c.1667G= NP_671737.1:p.Arg556=
ENST00000261740.6:c.1847G= ENSP00000261740.2:p.Arg616=
ENST00000418703.6:c.1847G= ENSP00000406191.2:p.Arg616=
ENST00000418703.7:c.1847G= ENSP00000406191.2:p.Arg616=
ENST00000536838.1:c.1745G= ENSP00000444336.1:p.Arg582=
ENST00000537083.5:c.1667G= ENSP00000442738.1:p.Arg556=
ENST00000538125.5:c.*230G= ENSP00000437449.1:n.*230G=
ENST00000541794.5:c.1706G= ENSP00000442167.1:p.Arg569=
ENST00000544971.5:c.1526G= ENSP00000443611.1:p.Arg509=
ENST00000674908.1:c.*934G= ENSP00000502012.1:n.*934G=
ENST00000675533.1:n.1878G=
ENST00000675670.1:c.1847G= ENSP00000502135.1:p.Arg616=
ENST00000676376.1:n.1878G=
XM_005253918.1:c.1847G= XP_005253975.1:p.Arg616=
XM_011538630.1:c.1847G= XP_011536932.1:p.Arg616=
XM_011538630.2:c.2000G= XP_011536932.2:p.Arg667=
XM_011538631.1:c.1706G= XP_011536933.1:p.Arg569=
XM_011538631.2:c.1859G= XP_011536933.2:p.Arg620=
XM_011538632.1:c.1667G= XP_011536934.1:p.Arg556=
XM_011538632.2:c.1820G= XP_011536934.2:p.Arg607=
XM_011538633.1:c.1526G= XP_011536935.1:p.Arg509=
XM_011538633.2:c.1679G= XP_011536935.2:p.Arg560=
XM_011538634.1:c.1847G= XP_011536936.1:p.Arg616=
XM_011538634.2:c.2000G= XP_011536936.2:p.Arg667=
XM_011538635.1:c.2000G= XP_011536937.1:p.Arg667=
XM_011538635.2:c.2000G= XP_011536937.1:p.Arg667=
XM_017019774.1:c.1847G= XP_016875263.1:p.Arg616=