Canonical Allele Identifier: CA352054

Gene: TRPC6

Linked Data

• ClinVar Variation Id: 222850
• ClinVar RCV Id: RCV000208455 ; RCV000713890 ; RCV001336716 ; RCV003422116
• dbSNP Id: rs869025541
• COSMIC: COSM922160
• MyVariant Identifiers: chr11:g.101375177G>A (hg19) ; chr11:g.101504446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101504446G>A , CM000673.2:g.101504446G>A	GRCh38
NC_000011.9:g.101375177G>A , CM000673.1:g.101375177G>A	GRCh37
NC_000011.8:g.100880387G>A	NCBI36
NG_011476.1:g.84483C>T
NG_011476.2:g.84483C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344327.8:c.523C>T MANE Select	ENSP00000340913.3:p.Arg175Trp
ENST00000344327.7:c.523C>T	ENSP00000340913.3:p.Arg175Trp
ENST00000348423.8:c.523C>T	ENSP00000343672.4:p.Arg175Trp
ENST00000360497.4:c.523C>T	ENSP00000353687.4:p.Arg175Trp
ENST00000532133.5:c.523C>T	ENSP00000435574.1:p.Arg175Trp
NM_004621.5:c.523C>T	NP_004612.2:p.Arg175Trp
XM_006718898.2:c.523C>T	XP_006718961.1:p.Arg175Trp
XM_011542968.1:c.358C>T	XP_011541270.1:p.Arg120Trp
XM_011542969.1:c.523C>T	XP_011541271.1:p.Arg175Trp
XM_011542968.3:c.358C>T	XP_011541270.1:p.Arg120Trp
XM_017018221.2:c.523C>T	XP_016873710.1:p.Arg175Trp
XR_001747948.2:n.879C>T
NM_004621.6:c.523C>T MANE Select	NP_004612.2:p.Arg175Trp