Canonical Allele Identifier: CA481718181

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 1631962
• ClinVar RCV Id: RCV002114970
• dbSNP Id: rs1328179779
• gnomAD v2: 12-110234456-C-T
• gnomAD v4: 12-109796651-C-T
• MyVariant Identifiers: chr12:g.110234456C>T (hg19) ; chr12:g.109796651C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109796651C>T , CM000674.2:g.109796651C>T	GRCh38
NC_000012.11:g.110234456C>T , CM000674.1:g.110234456C>T	GRCh37
NC_000012.10:g.108718839C>T	NCBI36
NG_017090.1:g.41757G>A , LRG_372:g.41757G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.1206G>A MANE Select	ENSP00000261740.2:p.Leu402=
ENST00000418703.7:c.1206G>A	ENSP00000406191.2:p.Leu402=
ENST00000674908.1:c.*293G>A	ENSP00000502012.1:n.*293G>A
ENST00000675533.1:n.1237G>A
ENST00000675670.1:c.1206G>A	ENSP00000502135.1:p.Leu402=
ENST00000676376.1:n.1237G>A
ENST00000261740.6:c.1206G>A	ENSP00000261740.2:p.Leu402=
ENST00000418703.6:c.1206G>A	ENSP00000406191.2:p.Leu402=
ENST00000536838.1:c.1104G>A	ENSP00000444336.1:p.Leu368=
ENST00000537083.5:c.1152+1963G>A	ENSP00000442738.1:n.1152+1963G>A
ENST00000538125.5:c.1206G>A	ENSP00000437449.1:p.Leu402=
ENST00000541794.5:c.1065G>A	ENSP00000442167.1:p.Leu355=
ENST00000544971.5:c.1011+1963G>A	ENSP00000443611.1:n.1011+1963G>A
NM_001177428.1:c.1065G>A	NP_001170899.1:p.Leu355=
NM_001177431.1:c.1104G>A	NP_001170902.1:p.Leu368=
NM_001177433.1:c.1011+1963G>A	NP_001170904.1:n.1011+1963G>A
NM_021625.4:c.1206G>A , LRG_372t1:c.1206G>A	NP_067638.3:p.Leu402=
NM_147204.2:c.1152+1963G>A	NP_671737.1:n.1152+1963G>A
XM_005253918.1:c.1206G>A	XP_005253975.1:p.Leu402=
XM_011538630.1:c.1206G>A	XP_011536932.1:p.Leu402=
XM_011538631.1:c.1065G>A	XP_011536933.1:p.Leu355=
XM_011538632.1:c.1152+1963G>A	XP_011536934.1:n.1152+1963G>A
XM_011538633.1:c.1011+1963G>A	XP_011536935.1:n.1011+1963G>A
XM_011538634.1:c.1206G>A	XP_011536936.1:p.Leu402=
XM_011538635.1:c.1359G>A	XP_011536937.1:p.Leu453=
XM_011538636.1:c.1359G>A	XP_011536938.1:p.Leu453=
XM_011538630.2:c.1359G>A	XP_011536932.2:p.Leu453=
XM_011538631.2:c.1218G>A	XP_011536933.2:p.Leu406=
XM_011538632.2:c.1305+1963G>A	XP_011536934.2:n.1305+1963G>A
XM_011538633.2:c.1164+1963G>A	XP_011536935.2:n.1164+1963G>A
XM_011538634.2:c.1359G>A	XP_011536936.2:p.Leu453=
XM_011538635.2:c.1359G>A	XP_011536937.1:p.Leu453=
XM_017019774.1:c.1206G>A	XP_016875263.1:p.Leu402=
NM_021625.5:c.1206G>A MANE Select	NP_067638.3:p.Leu402=