Canonical Allele Identifier: CA10632026
Gene: TRPV4 HGNC NCBI

Linked Data

ClinVar Variation Id: 307116
dbSNP Id: rs184413363

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109783256G>A , CM000674.2:g.109783256G>A GRCh38
NC_000012.11:g.110221061G>A , CM000674.1:g.110221061G>A GRCh37
NC_000012.10:g.108705444G>A NCBI36
NG_017090.1:g.55152C>T , LRG_372:g.55152C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261740.7:c.*365C>T MANE Select ENSP00000261740.2:n.*365C>T
ENST00000418703.7:c.*365C>T ENSP00000406191.2:n.*365C>T
ENST00000674908.1:c.*2068C>T ENSP00000502012.1:n.*2068C>T
ENST00000675670.1:c.*365C>T ENSP00000502135.1:n.*365C>T
ENST00000261740.6:c.*365C>T ENSP00000261740.2:n.*365C>T
ENST00000418703.6:c.*365C>T ENSP00000406191.2:n.*365C>T
NM_001177428.1:c.*365C>T NP_001170899.1:n.*365C>T
NM_001177431.1:c.2879C>T NP_001170902.1:n.2879C>T
NM_001177433.1:c.*365C>T NP_001170904.1:n.*365C>T
NM_021625.4:c.*365C>T , LRG_372t1:c.*365C>T NP_067638.3:n.*365C>T
NM_147204.2:c.*365C>T NP_671737.1:n.*365C>T
XM_005253918.1:c.*365C>T XP_005253975.1:n.*365C>T
XM_011538630.1:c.*365C>T XP_011536932.1:n.*365C>T
XM_011538631.1:c.*365C>T XP_011536933.1:n.*365C>T
XM_011538632.1:c.*365C>T XP_011536934.1:n.*365C>T
XM_011538633.1:c.*365C>T XP_011536935.1:n.*365C>T
XM_011538630.2:c.*365C>T XP_011536932.2:n.*365C>T
XM_011538631.2:c.*365C>T XP_011536933.2:n.*365C>T
XM_011538632.2:c.*365C>T XP_011536934.2:n.*365C>T
XM_011538633.2:c.*365C>T XP_011536935.2:n.*365C>T
XM_017019774.1:c.*365C>T XP_016875263.1:n.*365C>T
NM_021625.5:c.*365C>T MANE Select NP_067638.3:n.*365C>T