Canonical Allele Identifier: CA386654871

Gene: TRPV4

Linked Data

• dbSNP Id: rs1064795696
• gnomAD v3: 12-109798822-C-G
• gnomAD v4: 12-109798822-C-G
• MyVariant Identifiers: chr12:g.110236627C>G (hg19) ; chr12:g.109798822C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109798822C>G , CM000674.2:g.109798822C>G	GRCh38
NC_000012.11:g.110236627C>G , CM000674.1:g.110236627C>G	GRCh37
NC_000012.10:g.108721010C>G	NCBI36
NG_017090.1:g.39586G>C , LRG_372:g.39586G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261740.7:c.944G>C MANE Select	ENSP00000261740.2:p.Arg315Pro
ENST00000418703.7:c.944G>C	ENSP00000406191.2:p.Arg315Pro
ENST00000674908.1:c.*31G>C	ENSP00000502012.1:n.*31G>C
ENST00000675533.1:n.975G>C
ENST00000675670.1:c.944G>C	ENSP00000502135.1:p.Arg315Pro
ENST00000676376.1:n.975G>C
ENST00000261740.6:c.944G>C	ENSP00000261740.2:p.Arg315Pro
ENST00000418703.6:c.944G>C	ENSP00000406191.2:p.Arg315Pro
ENST00000536838.1:c.842G>C	ENSP00000444336.1:p.Arg281Pro
ENST00000537083.5:c.944G>C	ENSP00000442738.1:p.Arg315Pro
ENST00000538125.5:c.944G>C	ENSP00000437449.1:p.Arg315Pro
ENST00000541794.5:c.803G>C	ENSP00000442167.1:p.Arg268Pro
ENST00000544971.5:c.803G>C	ENSP00000443611.1:p.Arg268Pro
NM_001177428.1:c.803G>C	NP_001170899.1:p.Arg268Pro
NM_001177431.1:c.842G>C	NP_001170902.1:p.Arg281Pro
NM_001177433.1:c.803G>C	NP_001170904.1:p.Arg268Pro
NM_021625.4:c.944G>C , LRG_372t1:c.944G>C	NP_067638.3:p.Arg315Pro
NM_147204.2:c.944G>C	NP_671737.1:p.Arg315Pro
XM_005253918.1:c.944G>C	XP_005253975.1:p.Arg315Pro
XM_011538630.1:c.944G>C	XP_011536932.1:p.Arg315Pro
XM_011538631.1:c.803G>C	XP_011536933.1:p.Arg268Pro
XM_011538632.1:c.944G>C	XP_011536934.1:p.Arg315Pro
XM_011538633.1:c.803G>C	XP_011536935.1:p.Arg268Pro
XM_011538634.1:c.944G>C	XP_011536936.1:p.Arg315Pro
XM_011538635.1:c.1097G>C	XP_011536937.1:p.Arg366Pro
XM_011538636.1:c.1097G>C	XP_011536938.1:p.Arg366Pro
XM_011538630.2:c.1097G>C	XP_011536932.2:p.Arg366Pro
XM_011538631.2:c.956G>C	XP_011536933.2:p.Arg319Pro
XM_011538632.2:c.1097G>C	XP_011536934.2:p.Arg366Pro
XM_011538633.2:c.956G>C	XP_011536935.2:p.Arg319Pro
XM_011538634.2:c.1097G>C	XP_011536936.2:p.Arg366Pro
XM_011538635.2:c.1097G>C	XP_011536937.1:p.Arg366Pro
XM_017019774.1:c.944G>C	XP_016875263.1:p.Arg315Pro
NM_021625.5:c.944G>C MANE Select	NP_067638.3:p.Arg315Pro