Canonical Allele Identifier: CA10581538

Gene: TRPC6

Linked Data

• ClinVar Variation Id: 236166
• ClinVar RCV Id: RCV000225032
• dbSNP Id: rs878853193
• MyVariant Identifiers: chr11:g.101344483G>C (hg19) ; chr11:g.101473752G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101473752G>C , CM000673.2:g.101473752G>C	GRCh38
NC_000011.9:g.101344483G>C , CM000673.1:g.101344483G>C	GRCh37
NC_000011.8:g.100849693G>C	NCBI36
NG_011476.1:g.115177C>G
NG_011476.2:g.115177C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344327.8:c.1766C>G MANE Select	ENSP00000340913.3:p.Ser589Cys
ENST00000344327.7:c.1766C>G	ENSP00000340913.3:p.Ser589Cys
ENST00000348423.8:c.1418C>G	ENSP00000343672.4:p.Ser473Cys
ENST00000360497.4:c.1601C>G	ENSP00000353687.4:p.Ser534Cys
ENST00000532133.5:c.1532C>G	ENSP00000435574.1:p.Ser511Cys
NM_004621.5:c.1766C>G	NP_004612.2:p.Ser589Cys
XM_006718898.2:c.1766C>G	XP_006718961.1:p.Ser589Cys
XM_011542968.1:c.1601C>G	XP_011541270.1:p.Ser534Cys
XM_011542969.1:c.1766C>G	XP_011541271.1:p.Ser589Cys
XM_011542968.3:c.1601C>G	XP_011541270.1:p.Ser534Cys
XM_017018221.2:c.1418C>G	XP_016873710.1:p.Ser473Cys
XR_001747948.2:n.2122C>G
NM_004621.6:c.1766C>G MANE Select	NP_004612.2:p.Ser589Cys