Canonical Allele Identifier: CA6780409

Gene: TRPV4

Linked Data

• ClinVar Variation Id: 1923105
• ClinVar RCV Id: RCV002604371
• dbSNP Id: rs757137288
• ExAC: 12:110238406 A / C
• gnomAD v2: 12-110238406-A-C
• gnomAD v4: 12-109800601-A-C
• MyVariant Identifiers: chr12:g.110238406A>C (hg19) ; chr12:g.109800601A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109800601A>C , CM000674.2:g.109800601A>C	GRCh38
NC_000012.11:g.110238406A>C , CM000674.1:g.110238406A>C	GRCh37
NC_000012.10:g.108722789A>C	NCBI36
NG_017090.1:g.37807T>G , LRG_372:g.37807T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261740.7:c.853+17T>G MANE Select	ENSP00000261740.2:n.853+17T>G
ENST00000418703.7:c.853+17T>G	ENSP00000406191.2:n.853+17T>G
ENST00000674908.1:c.882+17T>G	ENSP00000502012.1:n.882+17T>G
ENST00000675533.1:n.884+17T>G
ENST00000675670.1:c.853+17T>G	ENSP00000502135.1:n.853+17T>G
ENST00000676376.1:n.884+17T>G
ENST00000261740.6:c.853+17T>G	ENSP00000261740.2:n.853+17T>G
ENST00000418703.6:c.853+17T>G	ENSP00000406191.2:n.853+17T>G
ENST00000536838.1:c.751+17T>G	ENSP00000444336.1:n.751+17T>G
ENST00000537083.5:c.853+17T>G	ENSP00000442738.1:n.853+17T>G
ENST00000538125.5:c.853+17T>G	ENSP00000437449.1:n.853+17T>G
ENST00000541794.5:c.713-1689T>G	ENSP00000442167.1:n.713-1689T>G
ENST00000544971.5:c.713-1689T>G	ENSP00000443611.1:n.713-1689T>G
NM_001177428.1:c.713-1689T>G	NP_001170899.1:n.713-1689T>G
NM_001177431.1:c.751+17T>G	NP_001170902.1:n.751+17T>G
NM_001177433.1:c.713-1689T>G	NP_001170904.1:n.713-1689T>G
NM_021625.4:c.853+17T>G , LRG_372t1:c.853+17T>G	NP_067638.3:n.853+17T>G
NM_147204.2:c.853+17T>G	NP_671737.1:n.853+17T>G
XM_005253918.1:c.853+17T>G	XP_005253975.1:n.853+17T>G
XM_011538630.1:c.853+17T>G	XP_011536932.1:n.853+17T>G
XM_011538631.1:c.713-1689T>G	XP_011536933.1:n.713-1689T>G
XM_011538632.1:c.853+17T>G	XP_011536934.1:n.853+17T>G
XM_011538633.1:c.713-1689T>G	XP_011536935.1:n.713-1689T>G
XM_011538634.1:c.853+17T>G	XP_011536936.1:n.853+17T>G
XM_011538635.1:c.1006+17T>G	XP_011536937.1:n.1006+17T>G
XM_011538636.1:c.1006+17T>G	XP_011536938.1:n.1006+17T>G
XM_011538630.2:c.1006+17T>G	XP_011536932.2:n.1006+17T>G
XM_011538631.2:c.866-1689T>G	XP_011536933.2:n.866-1689T>G
XM_011538632.2:c.1006+17T>G	XP_011536934.2:n.1006+17T>G
XM_011538633.2:c.866-1689T>G	XP_011536935.2:n.866-1689T>G
XM_011538634.2:c.1006+17T>G	XP_011536936.2:n.1006+17T>G
XM_011538635.2:c.1006+17T>G	XP_011536937.1:n.1006+17T>G
XM_017019774.1:c.853+17T>G	XP_016875263.1:n.853+17T>G
NM_021625.5:c.853+17T>G MANE Select	NP_067638.3:n.853+17T>G