Canonical Allele Identifier: CA6244426

Gene: TRPC6

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101491688G>A , CM000673.2:g.101491688G>A	GRCh38
NC_000011.9:g.101362419G>A , CM000673.1:g.101362419G>A	GRCh37
NC_000011.8:g.100867629G>A	NCBI36
NG_011476.1:g.97241C>T
NG_011476.2:g.97241C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004621.6:c.996C>T MANE Select	NP_004612.2:p.Leu332=
ENST00000344327.8:c.996C>T MANE Select	ENSP00000340913.3:p.Leu332=
NM_004621.5:c.996C>T	NP_004612.2:p.Leu332=
ENST00000344327.7:c.996C>T	ENSP00000340913.3:p.Leu332=
ENST00000348423.8:c.946-8523C>T	ENSP00000343672.4:n.946-8523C>T
ENST00000360497.4:c.996C>T	ENSP00000353687.4:p.Leu332=
ENST00000527240.1:n.118C>T
ENST00000532133.5:c.996C>T	ENSP00000435574.1:p.Leu332=
XM_006718898.2:c.996C>T	XP_006718961.1:p.Leu332=
XM_011542968.1:c.831C>T	XP_011541270.1:p.Leu277=
XM_011542968.3:c.831C>T	XP_011541270.1:p.Leu277=
XM_011542969.1:c.996C>T	XP_011541271.1:p.Leu332=
XM_017018221.2:c.946-8523C>T	XP_016873710.1:n.946-8523C>T
XR_001747948.2:n.1352C>T