Canonical Allele Identifier: CA337233

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 216733
• ClinVar RCV Id: RCV000197485 ; RCV000215795 ; RCV000269145 ; RCV000339075 ; RCV000399774 ; RCV000310273 ; RCV000363721 ; RCV002277550 ; RCV002519574
• dbSNP Id: rs138396764
• ExAC: 12:110221437 C / T
• gnomAD v2: 12-110221437-C-T
• gnomAD v3: 12-109783632-C-T
• gnomAD v4: 12-109783632-C-T
• MyVariant Identifiers: chr12:g.110221437C>T (hg19) ; chr12:g.109783632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109783632C>T , CM000674.2:g.109783632C>T	GRCh38
NC_000012.11:g.110221437C>T , CM000674.1:g.110221437C>T	GRCh37
NC_000012.10:g.108705820C>T	NCBI36
NG_017090.1:g.54776G>A , LRG_372:g.54776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.2605G>A MANE Select	ENSP00000261740.2:p.Ala869Thr
ENST00000418703.7:c.2605G>A	ENSP00000406191.2:p.Ala869Thr
ENST00000674908.1:c.*1692G>A	ENSP00000502012.1:n.*1692G>A
ENST00000675670.1:c.2605G>A	ENSP00000502135.1:p.Ala869Thr
ENST00000261740.6:c.2605G>A	ENSP00000261740.2:p.Ala869Thr
ENST00000418703.6:c.2605G>A	ENSP00000406191.2:p.Ala869Thr
ENST00000536838.1:c.2503G>A	ENSP00000444336.1:p.Ala835Thr
ENST00000537083.5:c.2425G>A	ENSP00000442738.1:p.Ala809Thr
ENST00000538125.5:c.*988G>A	ENSP00000437449.1:n.*988G>A
ENST00000541794.5:c.2464G>A	ENSP00000442167.1:p.Ala822Thr
ENST00000544971.5:c.2284G>A	ENSP00000443611.1:p.Ala762Thr
NM_001177428.1:c.2464G>A	NP_001170899.1:p.Ala822Thr
NM_001177431.1:c.2503G>A	NP_001170902.1:p.Ala835Thr
NM_001177433.1:c.2284G>A	NP_001170904.1:p.Ala762Thr
NM_021625.4:c.2605G>A , LRG_372t1:c.2605G>A	NP_067638.3:p.Ala869Thr
NM_147204.2:c.2425G>A	NP_671737.1:p.Ala809Thr
XM_005253918.1:c.2605G>A	XP_005253975.1:p.Ala869Thr
XM_011538630.1:c.2605G>A	XP_011536932.1:p.Ala869Thr
XM_011538631.1:c.2464G>A	XP_011536933.1:p.Ala822Thr
XM_011538632.1:c.2425G>A	XP_011536934.1:p.Ala809Thr
XM_011538633.1:c.2284G>A	XP_011536935.1:p.Ala762Thr
XM_011538630.2:c.2758G>A	XP_011536932.2:p.Ala920Thr
XM_011538631.2:c.2617G>A	XP_011536933.2:p.Ala873Thr
XM_011538632.2:c.2578G>A	XP_011536934.2:p.Ala860Thr
XM_011538633.2:c.2437G>A	XP_011536935.2:p.Ala813Thr
XM_017019774.1:c.2605G>A	XP_016875263.1:p.Ala869Thr
NM_021625.5:c.2605G>A MANE Select	NP_067638.3:p.Ala869Thr