Canonical Allele Identifier: CA10581531
Gene: TRPC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 236158
ClinVar RCV Id: RCV000225057
dbSNP Id: rs878853186

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101469451T>C , CM000673.2:g.101469451T>C GRCh38
NC_000011.9:g.101340182T>C , CM000673.1:g.101340182T>C GRCh37
NC_000011.8:g.100845392T>C NCBI36
NG_011476.1:g.119478A>G
NG_011476.2:g.119478A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344327.8:c.2460A>G MANE Select ENSP00000340913.3:p.Ser820=
ENST00000344327.7:c.2460A>G ENSP00000340913.3:p.Ser820=
ENST00000348423.8:c.2112A>G ENSP00000343672.4:p.Ser704=
ENST00000360497.4:c.2295A>G ENSP00000353687.4:p.Ser765=
ENST00000532133.5:c.2226A>G ENSP00000435574.1:p.Ser742=
NM_004621.5:c.2460A>G NP_004612.2:p.Ser820=
XM_006718898.2:c.2409+1732A>G XP_006718961.1:n.2409+1732A>G
XM_011542968.1:c.2295A>G XP_011541270.1:p.Ser765=
XM_011542969.1:c.2460A>G XP_011541271.1:p.Ser820=
XM_011542968.3:c.2295A>G XP_011541270.1:p.Ser765=
XM_017018221.2:c.2112A>G XP_016873710.1:p.Ser704=
XR_001747948.2:n.2816A>G
NM_004621.6:c.2460A>G MANE Select NP_004612.2:p.Ser820=