Canonical Allele Identifier: CA915946699

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 644738
• ClinVar RCV Id: RCV000798721
• dbSNP Id: rs1592838554

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109798676_109798693del , CM000674.2:g.109798676_109798693del	GRCh38
NC_000012.11:g.110236481_110236498del , CM000674.1:g.110236481_110236498del	GRCh37
NC_000012.10:g.108720864_108720881del	NCBI36
NG_017090.1:g.39718_39735del , LRG_372:g.39718_39735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.1076_1093del MANE Select	ENSP00000261740.2:p.Asp359_Ala364del
ENST00000418703.7:c.1076_1093del	ENSP00000406191.2:p.Asp359_Ala364del
ENST00000674908.1:c.*163_*180del	ENSP00000502012.1:n.*163_*180del
ENST00000675533.1:n.1107_1124del
ENST00000675670.1:c.1076_1093del	ENSP00000502135.1:p.Asp359_Ala364del
ENST00000676376.1:n.1107_1124del
ENST00000261740.6:c.1076_1093del	ENSP00000261740.2:p.Asp359_Ala364del
ENST00000418703.6:c.1076_1093del	ENSP00000406191.2:p.Asp359_Ala364del
ENST00000536838.1:c.974_991del	ENSP00000444336.1:p.Asp325_Ala330del
ENST00000537083.5:c.1076_1093del	ENSP00000442738.1:p.Asp359_Ala364del
ENST00000538125.5:c.1076_1093del	ENSP00000437449.1:p.Asp359_Ala364del
ENST00000541794.5:c.935_952del	ENSP00000442167.1:p.Asp312_Ala317del
ENST00000544971.5:c.935_952del	ENSP00000443611.1:p.Asp312_Ala317del
NM_001177428.1:c.935_952del	NP_001170899.1:p.Asp312_Ala317del
NM_001177431.1:c.974_991del	NP_001170902.1:p.Asp325_Ala330del
NM_001177433.1:c.935_952del	NP_001170904.1:p.Asp312_Ala317del
NM_021625.4:c.1076_1093del , LRG_372t1:c.1076_1093del	NP_067638.3:p.Asp359_Ala364del
NM_147204.2:c.1076_1093del	NP_671737.1:p.Asp359_Ala364del
XM_005253918.1:c.1076_1093del	XP_005253975.1:p.Asp359_Ala364del
XM_011538630.1:c.1076_1093del	XP_011536932.1:p.Asp359_Ala364del
XM_011538631.1:c.935_952del	XP_011536933.1:p.Asp312_Ala317del
XM_011538632.1:c.1076_1093del	XP_011536934.1:p.Asp359_Ala364del
XM_011538633.1:c.935_952del	XP_011536935.1:p.Asp312_Ala317del
XM_011538634.1:c.1076_1093del	XP_011536936.1:p.Asp359_Ala364del
XM_011538635.1:c.1229_1246del	XP_011536937.1:p.Asp410_Ala415del
XM_011538636.1:c.1229_1246del	XP_011536938.1:p.Asp410_Ala415del
XM_011538630.2:c.1229_1246del	XP_011536932.2:p.Asp410_Ala415del
XM_011538631.2:c.1088_1105del	XP_011536933.2:p.Asp363_Ala368del
XM_011538632.2:c.1229_1246del	XP_011536934.2:p.Asp410_Ala415del
XM_011538633.2:c.1088_1105del	XP_011536935.2:p.Asp363_Ala368del
XM_011538634.2:c.1229_1246del	XP_011536936.2:p.Asp410_Ala415del
XM_011538635.2:c.1229_1246del	XP_011536937.1:p.Asp410_Ala415del
XM_017019774.1:c.1076_1093del	XP_016875263.1:p.Asp359_Ala364del
NM_021625.5:c.1076_1093del MANE Select	NP_067638.3:p.Asp359_Ala364del