Canonical Allele Identifier: CA117982

Gene: TRPC6

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101453068G>A , CM000673.2:g.101453068G>A	GRCh38
NC_000011.9:g.101323799G>A , CM000673.1:g.101323799G>A	GRCh37
NC_000011.8:g.100829009G>A	NCBI36
NG_011476.1:g.135861C>T
NG_011476.2:g.135861C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344327.8:c.2683C>T MANE Select	ENSP00000340913.3:p.Arg895Cys
ENST00000344327.7:c.2683C>T	ENSP00000340913.3:p.Arg895Cys
ENST00000348423.8:c.2335C>T	ENSP00000343672.4:p.Arg779Cys
ENST00000360497.4:c.2518C>T	ENSP00000353687.4:p.Arg840Cys
ENST00000532133.5:c.2449C>T	ENSP00000435574.1:p.Arg817Cys
NM_004621.5:c.2683C>T	NP_004612.2:p.Arg895Cys
XM_006718898.2:c.2608C>T	XP_006718961.1:p.Arg870Cys
XM_011542968.1:c.2518C>T	XP_011541270.1:p.Arg840Cys
XM_011542968.3:c.2518C>T	XP_011541270.1:p.Arg840Cys
XM_017018221.2:c.2335C>T	XP_016873710.1:p.Arg779Cys
XR_001747948.2:n.3040C>T
NM_004621.6:c.2683C>T MANE Select	NP_004612.2:p.Arg895Cys