Canonical Allele Identifier: CA386653836

Gene: TRPV4

Linked Data

• gnomAD v4: 12-109796649-G-A
• COSMIC: COSM6041878
• MyVariant Identifiers: chr12:g.110234454G>A (hg19) ; chr12:g.109796649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109796649G>A , CM000674.2:g.109796649G>A	GRCh38
NC_000012.11:g.110234454G>A , CM000674.1:g.110234454G>A	GRCh37
NC_000012.10:g.108718837G>A	NCBI36
NG_017090.1:g.41759C>T , LRG_372:g.41759C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261740.7:c.1208C>T MANE Select	ENSP00000261740.2:p.Ser403Phe
ENST00000418703.7:c.1208C>T	ENSP00000406191.2:p.Ser403Phe
ENST00000674908.1:c.*295C>T	ENSP00000502012.1:n.*295C>T
ENST00000675533.1:n.1239C>T
ENST00000675670.1:c.1208C>T	ENSP00000502135.1:p.Ser403Phe
ENST00000676376.1:n.1239C>T
ENST00000261740.6:c.1208C>T	ENSP00000261740.2:p.Ser403Phe
ENST00000418703.6:c.1208C>T	ENSP00000406191.2:p.Ser403Phe
ENST00000536838.1:c.1106C>T	ENSP00000444336.1:p.Ser369Phe
ENST00000537083.5:c.1152+1965C>T	ENSP00000442738.1:n.1152+1965C>T
ENST00000538125.5:c.1208C>T	ENSP00000437449.1:p.Ser403Phe
ENST00000541794.5:c.1067C>T	ENSP00000442167.1:p.Ser356Phe
ENST00000544971.5:c.1011+1965C>T	ENSP00000443611.1:n.1011+1965C>T
NM_001177428.1:c.1067C>T	NP_001170899.1:p.Ser356Phe
NM_001177431.1:c.1106C>T	NP_001170902.1:p.Ser369Phe
NM_001177433.1:c.1011+1965C>T	NP_001170904.1:n.1011+1965C>T
NM_021625.4:c.1208C>T , LRG_372t1:c.1208C>T	NP_067638.3:p.Ser403Phe
NM_147204.2:c.1152+1965C>T	NP_671737.1:n.1152+1965C>T
XM_005253918.1:c.1208C>T	XP_005253975.1:p.Ser403Phe
XM_011538630.1:c.1208C>T	XP_011536932.1:p.Ser403Phe
XM_011538631.1:c.1067C>T	XP_011536933.1:p.Ser356Phe
XM_011538632.1:c.1152+1965C>T	XP_011536934.1:n.1152+1965C>T
XM_011538633.1:c.1011+1965C>T	XP_011536935.1:n.1011+1965C>T
XM_011538634.1:c.1208C>T	XP_011536936.1:p.Ser403Phe
XM_011538635.1:c.1361C>T	XP_011536937.1:p.Ser454Phe
XM_011538636.1:c.1361C>T	XP_011536938.1:p.Ser454Phe
XM_011538630.2:c.1361C>T	XP_011536932.2:p.Ser454Phe
XM_011538631.2:c.1220C>T	XP_011536933.2:p.Ser407Phe
XM_011538632.2:c.1305+1965C>T	XP_011536934.2:n.1305+1965C>T
XM_011538633.2:c.1164+1965C>T	XP_011536935.2:n.1164+1965C>T
XM_011538634.2:c.1361C>T	XP_011536936.2:p.Ser454Phe
XM_011538635.2:c.1361C>T	XP_011536937.1:p.Ser454Phe
XM_017019774.1:c.1208C>T	XP_016875263.1:p.Ser403Phe
NM_021625.5:c.1208C>T MANE Select	NP_067638.3:p.Ser403Phe