Canonical Allele Identifier: CA386648618

Gene: TRPV4

Linked Data

• MyVariant Identifiers: chr12:g.110221559C>A (hg19) ; chr12:g.109783754C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109783754C>A , CM000674.2:g.109783754C>A	GRCh38
NC_000012.11:g.110221559C>A , CM000674.1:g.110221559C>A	GRCh37
NC_000012.10:g.108705942C>A	NCBI36
NG_017090.1:g.54654G>T , LRG_372:g.54654G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261740.7:c.2483G>T MANE Select	ENSP00000261740.2:p.Arg828Leu
ENST00000418703.7:c.2483G>T	ENSP00000406191.2:p.Arg828Leu
ENST00000674908.1:c.*1570G>T	ENSP00000502012.1:n.*1570G>T
ENST00000675670.1:c.2483G>T	ENSP00000502135.1:p.Arg828Leu
ENST00000261740.6:c.2483G>T	ENSP00000261740.2:p.Arg828Leu
ENST00000418703.6:c.2483G>T	ENSP00000406191.2:p.Arg828Leu
ENST00000536838.1:c.2381G>T	ENSP00000444336.1:p.Arg794Leu
ENST00000537083.5:c.2303G>T	ENSP00000442738.1:p.Arg768Leu
ENST00000538125.5:c.*866G>T	ENSP00000437449.1:n.*866G>T
ENST00000541794.5:c.2342G>T	ENSP00000442167.1:p.Arg781Leu
ENST00000544971.5:c.2162G>T	ENSP00000443611.1:p.Arg721Leu
NM_001177428.1:c.2342G>T	NP_001170899.1:p.Arg781Leu
NM_001177431.1:c.2381G>T	NP_001170902.1:p.Arg794Leu
NM_001177433.1:c.2162G>T	NP_001170904.1:p.Arg721Leu
NM_021625.4:c.2483G>T , LRG_372t1:c.2483G>T	NP_067638.3:p.Arg828Leu
NM_147204.2:c.2303G>T	NP_671737.1:p.Arg768Leu
XM_005253918.1:c.2483G>T	XP_005253975.1:p.Arg828Leu
XM_011538630.1:c.2483G>T	XP_011536932.1:p.Arg828Leu
XM_011538631.1:c.2342G>T	XP_011536933.1:p.Arg781Leu
XM_011538632.1:c.2303G>T	XP_011536934.1:p.Arg768Leu
XM_011538633.1:c.2162G>T	XP_011536935.1:p.Arg721Leu
XM_011538630.2:c.2636G>T	XP_011536932.2:p.Arg879Leu
XM_011538631.2:c.2495G>T	XP_011536933.2:p.Arg832Leu
XM_011538632.2:c.2456G>T	XP_011536934.2:p.Arg819Leu
XM_011538633.2:c.2315G>T	XP_011536935.2:p.Arg772Leu
XM_017019774.1:c.2483G>T	XP_016875263.1:p.Arg828Leu
NM_021625.5:c.2483G>T MANE Select	NP_067638.3:p.Arg828Leu