Canonical Allele Identifier: CA227518871

Gene: TRPC6

Linked Data

• dbSNP Id: rs980363393
• gnomAD v4: 11-101483029-G-C
• MyVariant Identifiers: chr11:g.101353760G>C (hg19) ; chr11:g.101483029G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101483029G>C , CM000673.2:g.101483029G>C	GRCh38
NC_000011.9:g.101353760G>C , CM000673.1:g.101353760G>C	GRCh37
NC_000011.8:g.100858970G>C	NCBI36
NG_011476.1:g.105900C>G
NG_011476.2:g.105900C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344327.8:c.1430C>G MANE Select	ENSP00000340913.3:p.Thr477Arg
ENST00000344327.7:c.1430C>G	ENSP00000340913.3:p.Thr477Arg
ENST00000348423.8:c.1082C>G	ENSP00000343672.4:p.Thr361Arg
ENST00000360497.4:c.1265C>G	ENSP00000353687.4:p.Thr422Arg
ENST00000532133.5:c.1430C>G	ENSP00000435574.1:p.Thr477Arg
NM_004621.5:c.1430C>G	NP_004612.2:p.Thr477Arg
XM_006718898.2:c.1430C>G	XP_006718961.1:p.Thr477Arg
XM_011542968.1:c.1265C>G	XP_011541270.1:p.Thr422Arg
XM_011542969.1:c.1430C>G	XP_011541271.1:p.Thr477Arg
XM_011542968.3:c.1265C>G	XP_011541270.1:p.Thr422Arg
XM_017018221.2:c.1082C>G	XP_016873710.1:p.Thr361Arg
XR_001747948.2:n.1786C>G
NM_004621.6:c.1430C>G MANE Select	NP_004612.2:p.Thr477Arg