Canonical Allele Identifier: CA382486995

Gene: TRPC6

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101453067C>A , CM000673.2:g.101453067C>A	GRCh38
NC_000011.9:g.101323798C>A , CM000673.1:g.101323798C>A	GRCh37
NC_000011.8:g.100829008C>A	NCBI36
NG_011476.1:g.135862G>T
NG_011476.2:g.135862G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344327.8:c.2684G>T MANE Select	ENSP00000340913.3:p.Arg895Leu
ENST00000344327.7:c.2684G>T	ENSP00000340913.3:p.Arg895Leu
ENST00000348423.8:c.2336G>T	ENSP00000343672.4:p.Arg779Leu
ENST00000360497.4:c.2519G>T	ENSP00000353687.4:p.Arg840Leu
ENST00000532133.5:c.2450G>T	ENSP00000435574.1:p.Arg817Leu
NM_004621.5:c.2684G>T	NP_004612.2:p.Arg895Leu
XM_006718898.2:c.2609G>T	XP_006718961.1:p.Arg870Leu
XM_011542968.1:c.2519G>T	XP_011541270.1:p.Arg840Leu
XM_011542968.3:c.2519G>T	XP_011541270.1:p.Arg840Leu
XM_017018221.2:c.2336G>T	XP_016873710.1:p.Arg779Leu
XR_001747948.2:n.3041G>T
NM_004621.6:c.2684G>T MANE Select	NP_004612.2:p.Arg895Leu