Canonical Allele Identifier: CA386649958
Community Standard Title: NM_021625.5(TRPV4):c.2162C>G (p.Thr721Arg)
Gene: TRPV4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109788446G>C , CM000674.2:g.109788446G>C GRCh38
NC_000012.11:g.110226251G>C , CM000674.1:g.110226251G>C GRCh37
NC_000012.10:g.108710634G>C NCBI36
NG_017090.1:g.49962C>G , LRG_372:g.49962C>G

Transcript Alleles

HGVS Amino-acid Change
NM_021625.5:c.2162C>G MANE Select NP_067638.3:p.Thr721Arg
ENST00000261740.7:c.2162C>G MANE Select ENSP00000261740.2:p.Thr721Arg
NM_001177428.1:c.2021C>G NP_001170899.1:p.Thr674Arg
NM_001177431.1:c.2060C>G NP_001170902.1:p.Thr687Arg
NM_001177433.1:c.1841C>G NP_001170904.1:p.Thr614Arg
NM_021625.4:c.2162C>G , LRG_372t1:c.2162C>G NP_067638.3:p.Thr721Arg
NM_147204.2:c.1982C>G NP_671737.1:p.Thr661Arg
ENST00000261740.6:c.2162C>G ENSP00000261740.2:p.Thr721Arg
ENST00000418703.6:c.2162C>G ENSP00000406191.2:p.Thr721Arg
ENST00000418703.7:c.2162C>G ENSP00000406191.2:p.Thr721Arg
ENST00000536838.1:c.2060C>G ENSP00000444336.1:p.Thr687Arg
ENST00000537083.5:c.1982C>G ENSP00000442738.1:p.Thr661Arg
ENST00000538125.5:c.*545C>G ENSP00000437449.1:n.*545C>G
ENST00000541794.5:c.2021C>G ENSP00000442167.1:p.Thr674Arg
ENST00000544971.5:c.1841C>G ENSP00000443611.1:p.Thr614Arg
ENST00000674908.1:c.*1249C>G ENSP00000502012.1:n.*1249C>G
ENST00000675533.1:n.2193C>G
ENST00000675670.1:c.2162C>G ENSP00000502135.1:p.Thr721Arg
XM_005253918.1:c.2162C>G XP_005253975.1:p.Thr721Arg
XM_011538630.1:c.2162C>G XP_011536932.1:p.Thr721Arg
XM_011538630.2:c.2315C>G XP_011536932.2:p.Thr772Arg
XM_011538631.1:c.2021C>G XP_011536933.1:p.Thr674Arg
XM_011538631.2:c.2174C>G XP_011536933.2:p.Thr725Arg
XM_011538632.1:c.1982C>G XP_011536934.1:p.Thr661Arg
XM_011538632.2:c.2135C>G XP_011536934.2:p.Thr712Arg
XM_011538633.1:c.1841C>G XP_011536935.1:p.Thr614Arg
XM_011538633.2:c.1994C>G XP_011536935.2:p.Thr665Arg
XM_011538634.1:c.2162C>G XP_011536936.1:p.Thr721Arg
XM_011538634.2:c.2315C>G XP_011536936.2:p.Thr772Arg
XM_017019774.1:c.2162C>G XP_016875263.1:p.Thr721Arg