Canonical Allele Identifier: CA6244296

Gene: TRPC6

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101476434G>A , CM000673.2:g.101476434G>A	GRCh38
NC_000011.9:g.101347165G>A , CM000673.1:g.101347165G>A	GRCh37
NC_000011.8:g.100852375G>A	NCBI36
NG_011476.1:g.112495C>T
NG_011476.2:g.112495C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004621.6:c.1611C>T MANE Select	NP_004612.2:p.Phe537=
ENST00000344327.8:c.1611C>T MANE Select	ENSP00000340913.3:p.Phe537=
NM_004621.5:c.1611C>T	NP_004612.2:p.Phe537=
ENST00000344327.7:c.1611C>T	ENSP00000340913.3:p.Phe537=
ENST00000348423.8:c.1263C>T	ENSP00000343672.4:p.Phe421=
ENST00000360497.4:c.1446C>T	ENSP00000353687.4:p.Phe482=
ENST00000532133.5:c.1511-2661C>T	ENSP00000435574.1:n.1511-2661C>T
XM_006718898.2:c.1611C>T	XP_006718961.1:p.Phe537=
XM_011542968.1:c.1446C>T	XP_011541270.1:p.Phe482=
XM_011542968.3:c.1446C>T	XP_011541270.1:p.Phe482=
XM_011542969.1:c.1611C>T	XP_011541271.1:p.Phe537=
XM_017018221.2:c.1263C>T	XP_016873710.1:p.Phe421=
XR_001747948.2:n.1967C>T