Canonical Allele Identifier: CA386648641

Gene: TRPV4

Linked Data

• MyVariant Identifiers: chr12:g.110221571G>C (hg19) ; chr12:g.109783766G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109783766G>C , CM000674.2:g.109783766G>C	GRCh38
NC_000012.11:g.110221571G>C , CM000674.1:g.110221571G>C	GRCh37
NC_000012.10:g.108705954G>C	NCBI36
NG_017090.1:g.54642C>G , LRG_372:g.54642C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261740.7:c.2471C>G MANE Select	ENSP00000261740.2:p.Ser824Trp
ENST00000418703.7:c.2471C>G	ENSP00000406191.2:p.Ser824Trp
ENST00000674908.1:c.*1558C>G	ENSP00000502012.1:n.*1558C>G
ENST00000675670.1:c.2471C>G	ENSP00000502135.1:p.Ser824Trp
ENST00000261740.6:c.2471C>G	ENSP00000261740.2:p.Ser824Trp
ENST00000418703.6:c.2471C>G	ENSP00000406191.2:p.Ser824Trp
ENST00000536838.1:c.2369C>G	ENSP00000444336.1:p.Ser790Trp
ENST00000537083.5:c.2291C>G	ENSP00000442738.1:p.Ser764Trp
ENST00000538125.5:c.*854C>G	ENSP00000437449.1:n.*854C>G
ENST00000541794.5:c.2330C>G	ENSP00000442167.1:p.Ser777Trp
ENST00000544971.5:c.2150C>G	ENSP00000443611.1:p.Ser717Trp
NM_001177428.1:c.2330C>G	NP_001170899.1:p.Ser777Trp
NM_001177431.1:c.2369C>G	NP_001170902.1:p.Ser790Trp
NM_001177433.1:c.2150C>G	NP_001170904.1:p.Ser717Trp
NM_021625.4:c.2471C>G , LRG_372t1:c.2471C>G	NP_067638.3:p.Ser824Trp
NM_147204.2:c.2291C>G	NP_671737.1:p.Ser764Trp
XM_005253918.1:c.2471C>G	XP_005253975.1:p.Ser824Trp
XM_011538630.1:c.2471C>G	XP_011536932.1:p.Ser824Trp
XM_011538631.1:c.2330C>G	XP_011536933.1:p.Ser777Trp
XM_011538632.1:c.2291C>G	XP_011536934.1:p.Ser764Trp
XM_011538633.1:c.2150C>G	XP_011536935.1:p.Ser717Trp
XM_011538630.2:c.2624C>G	XP_011536932.2:p.Ser875Trp
XM_011538631.2:c.2483C>G	XP_011536933.2:p.Ser828Trp
XM_011538632.2:c.2444C>G	XP_011536934.2:p.Ser815Trp
XM_011538633.2:c.2303C>G	XP_011536935.2:p.Ser768Trp
XM_017019774.1:c.2471C>G	XP_016875263.1:p.Ser824Trp
NM_021625.5:c.2471C>G MANE Select	NP_067638.3:p.Ser824Trp