Canonical Allele Identifier: CA386651782
Community Standard Title: NM_021625.5(TRPV4):c.1858G>C (p.Val620Leu)
Gene: TRPV4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109792396C>G , CM000674.2:g.109792396C>G GRCh38
NC_000012.11:g.110230201C>G , CM000674.1:g.110230201C>G GRCh37
NC_000012.10:g.108714584C>G NCBI36
NG_017090.1:g.46012G>C , LRG_372:g.46012G>C

Transcript Alleles

HGVS Amino-acid Change
NM_021625.5:c.1858G>C MANE Select NP_067638.3:p.Val620Leu
ENST00000261740.7:c.1858G>C MANE Select ENSP00000261740.2:p.Val620Leu
NM_001177428.1:c.1717G>C NP_001170899.1:p.Val573Leu
NM_001177431.1:c.1756G>C NP_001170902.1:p.Val586Leu
NM_001177433.1:c.1537G>C NP_001170904.1:p.Val513Leu
NM_021625.4:c.1858G>C , LRG_372t1:c.1858G>C NP_067638.3:p.Val620Leu
NM_147204.2:c.1678G>C NP_671737.1:p.Val560Leu
ENST00000261740.6:c.1858G>C ENSP00000261740.2:p.Val620Leu
ENST00000418703.6:c.1858G>C ENSP00000406191.2:p.Val620Leu
ENST00000418703.7:c.1858G>C ENSP00000406191.2:p.Val620Leu
ENST00000536838.1:c.1756G>C ENSP00000444336.1:p.Val586Leu
ENST00000537083.5:c.1678G>C ENSP00000442738.1:p.Val560Leu
ENST00000538125.5:c.*241G>C ENSP00000437449.1:n.*241G>C
ENST00000541794.5:c.1717G>C ENSP00000442167.1:p.Val573Leu
ENST00000544971.5:c.1537G>C ENSP00000443611.1:p.Val513Leu
ENST00000674908.1:c.*945G>C ENSP00000502012.1:n.*945G>C
ENST00000675533.1:n.1889G>C
ENST00000675670.1:c.1858G>C ENSP00000502135.1:p.Val620Leu
ENST00000676376.1:n.1889G>C
XM_005253918.1:c.1858G>C XP_005253975.1:p.Val620Leu
XM_011538630.1:c.1858G>C XP_011536932.1:p.Val620Leu
XM_011538630.2:c.2011G>C XP_011536932.2:p.Val671Leu
XM_011538631.1:c.1717G>C XP_011536933.1:p.Val573Leu
XM_011538631.2:c.1870G>C XP_011536933.2:p.Val624Leu
XM_011538632.1:c.1678G>C XP_011536934.1:p.Val560Leu
XM_011538632.2:c.1831G>C XP_011536934.2:p.Val611Leu
XM_011538633.1:c.1537G>C XP_011536935.1:p.Val513Leu
XM_011538633.2:c.1690G>C XP_011536935.2:p.Val564Leu
XM_011538634.1:c.1858G>C XP_011536936.1:p.Val620Leu
XM_011538634.2:c.2011G>C XP_011536936.2:p.Val671Leu
XM_011538635.1:c.2011G>C XP_011536937.1:p.Val671Leu
XM_011538635.2:c.2011G>C XP_011536937.1:p.Val671Leu
XM_017019774.1:c.1858G>C XP_016875263.1:p.Val620Leu