Canonical Allele Identifier: CA382440443

Gene: TRPC6

Linked Data

• MyVariant Identifiers: chr11:g.101344456A>C (hg19) ; chr11:g.101473725A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101473725A>C , CM000673.2:g.101473725A>C	GRCh38
NC_000011.9:g.101344456A>C , CM000673.1:g.101344456A>C	GRCh37
NC_000011.8:g.100849666A>C	NCBI36
NG_011476.1:g.115204T>G
NG_011476.2:g.115204T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344327.8:c.1793T>G MANE Select	ENSP00000340913.3:p.Leu598Arg
ENST00000344327.7:c.1793T>G	ENSP00000340913.3:p.Leu598Arg
ENST00000348423.8:c.1445T>G	ENSP00000343672.4:p.Leu482Arg
ENST00000360497.4:c.1628T>G	ENSP00000353687.4:p.Leu543Arg
ENST00000532133.5:c.1559T>G	ENSP00000435574.1:p.Leu520Arg
NM_004621.5:c.1793T>G	NP_004612.2:p.Leu598Arg
XM_006718898.2:c.1793T>G	XP_006718961.1:p.Leu598Arg
XM_011542968.1:c.1628T>G	XP_011541270.1:p.Leu543Arg
XM_011542969.1:c.1793T>G	XP_011541271.1:p.Leu598Arg
XM_011542968.3:c.1628T>G	XP_011541270.1:p.Leu543Arg
XM_017018221.2:c.1445T>G	XP_016873710.1:p.Leu482Arg
XR_001747948.2:n.2149T>G
NM_004621.6:c.1793T>G MANE Select	NP_004612.2:p.Leu598Arg