Canonical Allele Identifier: CA10581542
Gene: TRPC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 236170
ClinVar RCV Id: RCV000225067
dbSNP Id: rs878853197

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101483019T>C , CM000673.2:g.101483019T>C GRCh38
NC_000011.9:g.101353750T>C , CM000673.1:g.101353750T>C GRCh37
NC_000011.8:g.100858960T>C NCBI36
NG_011476.1:g.105910A>G
NG_011476.2:g.105910A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000344327.8:c.1440A>G MANE Select ENSP00000340913.3:p.Ala480=
ENST00000344327.7:c.1440A>G ENSP00000340913.3:p.Ala480=
ENST00000348423.8:c.1092A>G ENSP00000343672.4:p.Ala364=
ENST00000360497.4:c.1275A>G ENSP00000353687.4:p.Ala425=
ENST00000532133.5:c.1440A>G ENSP00000435574.1:p.Ala480=
NM_004621.5:c.1440A>G NP_004612.2:p.Ala480=
XM_006718898.2:c.1440A>G XP_006718961.1:p.Ala480=
XM_011542968.1:c.1275A>G XP_011541270.1:p.Ala425=
XM_011542969.1:c.1440A>G XP_011541271.1:p.Ala480=
XM_011542968.3:c.1275A>G XP_011541270.1:p.Ala425=
XM_017018221.2:c.1092A>G XP_016873710.1:p.Ala364=
XR_001747948.2:n.1796A>G
NM_004621.6:c.1440A>G MANE Select NP_004612.2:p.Ala480=