Canonical Allele Identifier: CA1139662861
Gene: TRPV4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109783619C>T , CM000674.2:g.109783619C>T GRCh38
NC_000012.11:g.110221424C>T , CM000674.1:g.110221424C>T GRCh37
NC_000012.10:g.108705807C>T NCBI36
NG_017090.1:g.54789G>A , LRG_372:g.54789G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261740.7:c.*2G>A MANE Select ENSP00000261740.2:n.*2G>A
ENST00000418703.7:c.*2G>A ENSP00000406191.2:n.*2G>A
ENST00000674908.1:c.*1705G>A ENSP00000502012.1:n.*1705G>A
ENST00000675670.1:c.*2G>A ENSP00000502135.1:n.*2G>A
ENST00000261740.6:c.*2G>A ENSP00000261740.2:n.*2G>A
ENST00000418703.6:c.*2G>A ENSP00000406191.2:n.*2G>A
ENST00000538125.5:c.*1001G>A ENSP00000437449.1:n.*1001G>A
NM_001177428.1:c.*2G>A NP_001170899.1:n.*2G>A
NM_001177431.1:c.2516G>A NP_001170902.1:n.2516G>A
NM_001177433.1:c.*2G>A NP_001170904.1:n.*2G>A
NM_021625.4:c.*2G>A , LRG_372t1:c.*2G>A NP_067638.3:n.*2G>A
NM_147204.2:c.*2G>A NP_671737.1:n.*2G>A
XM_005253918.1:c.*2G>A XP_005253975.1:n.*2G>A
XM_011538630.1:c.*2G>A XP_011536932.1:n.*2G>A
XM_011538631.1:c.*2G>A XP_011536933.1:n.*2G>A
XM_011538632.1:c.*2G>A XP_011536934.1:n.*2G>A
XM_011538633.1:c.*2G>A XP_011536935.1:n.*2G>A
XM_011538630.2:c.*2G>A XP_011536932.2:n.*2G>A
XM_011538631.2:c.*2G>A XP_011536933.2:n.*2G>A
XM_011538632.2:c.*2G>A XP_011536934.2:n.*2G>A
XM_011538633.2:c.*2G>A XP_011536935.2:n.*2G>A
XM_017019774.1:c.*2G>A XP_016875263.1:n.*2G>A
NM_021625.5:c.*2G>A MANE Select NP_067638.3:n.*2G>A