Canonical Allele Identifier: CA6780303

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 307132
• ClinVar RCV Id: RCV000281928 ; RCV000297089 ; RCV000336787 ; RCV000351981 ; RCV000396047 ; RCV000396046 ; RCV000596388
• dbSNP Id: rs377257364
• ExAC: 12:110234451 C / T
• gnomAD v2: 12-110234451-C-T
• gnomAD v4: 12-109796646-C-T
• MyVariant Identifiers: chr12:g.110234451C>T (hg19) ; chr12:g.109796646C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109796646C>T , CM000674.2:g.109796646C>T	GRCh38
NC_000012.11:g.110234451C>T , CM000674.1:g.110234451C>T	GRCh37
NC_000012.10:g.108718834C>T	NCBI36
NG_017090.1:g.41762G>A , LRG_372:g.41762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.1211G>A MANE Select	ENSP00000261740.2:p.Arg404His
ENST00000418703.7:c.1211G>A	ENSP00000406191.2:p.Arg404His
ENST00000674908.1:c.*298G>A	ENSP00000502012.1:n.*298G>A
ENST00000675533.1:n.1242G>A
ENST00000675670.1:c.1211G>A	ENSP00000502135.1:p.Arg404His
ENST00000676376.1:n.1242G>A
ENST00000261740.6:c.1211G>A	ENSP00000261740.2:p.Arg404His
ENST00000418703.6:c.1211G>A	ENSP00000406191.2:p.Arg404His
ENST00000536838.1:c.1109G>A	ENSP00000444336.1:p.Arg370His
ENST00000537083.5:c.1152+1968G>A	ENSP00000442738.1:n.1152+1968G>A
ENST00000538125.5:c.1211G>A	ENSP00000437449.1:p.Arg404His
ENST00000541794.5:c.1070G>A	ENSP00000442167.1:p.Arg357His
ENST00000544971.5:c.1011+1968G>A	ENSP00000443611.1:n.1011+1968G>A
NM_001177428.1:c.1070G>A	NP_001170899.1:p.Arg357His
NM_001177431.1:c.1109G>A	NP_001170902.1:p.Arg370His
NM_001177433.1:c.1011+1968G>A	NP_001170904.1:n.1011+1968G>A
NM_021625.4:c.1211G>A , LRG_372t1:c.1211G>A	NP_067638.3:p.Arg404His
NM_147204.2:c.1152+1968G>A	NP_671737.1:n.1152+1968G>A
XM_005253918.1:c.1211G>A	XP_005253975.1:p.Arg404His
XM_011538630.1:c.1211G>A	XP_011536932.1:p.Arg404His
XM_011538631.1:c.1070G>A	XP_011536933.1:p.Arg357His
XM_011538632.1:c.1152+1968G>A	XP_011536934.1:n.1152+1968G>A
XM_011538633.1:c.1011+1968G>A	XP_011536935.1:n.1011+1968G>A
XM_011538634.1:c.1211G>A	XP_011536936.1:p.Arg404His
XM_011538635.1:c.1364G>A	XP_011536937.1:p.Arg455His
XM_011538636.1:c.1364G>A	XP_011536938.1:p.Arg455His
XM_011538630.2:c.1364G>A	XP_011536932.2:p.Arg455His
XM_011538631.2:c.1223G>A	XP_011536933.2:p.Arg408His
XM_011538632.2:c.1305+1968G>A	XP_011536934.2:n.1305+1968G>A
XM_011538633.2:c.1164+1968G>A	XP_011536935.2:n.1164+1968G>A
XM_011538634.2:c.1364G>A	XP_011536936.2:p.Arg455His
XM_011538635.2:c.1364G>A	XP_011536937.1:p.Arg455His
XM_017019774.1:c.1211G>A	XP_016875263.1:p.Arg404His
NM_021625.5:c.1211G>A MANE Select	NP_067638.3:p.Arg404His