Canonical Allele Identifier: CA228236000

Gene: TRPC6

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101453693T>G , CM000673.2:g.101453693T>G	GRCh38
NC_000011.9:g.101324424T>G , CM000673.1:g.101324424T>G	GRCh37
NC_000011.8:g.100829634T>G	NCBI36
NG_011476.1:g.135236A>C
NG_011476.2:g.135236A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004621.6:c.2601A>C MANE Select	NP_004612.2:p.Val867=
ENST00000344327.8:c.2601A>C MANE Select	ENSP00000340913.3:p.Val867=
NM_004621.5:c.2601A>C	NP_004612.2:p.Val867=
ENST00000344327.7:c.2601A>C	ENSP00000340913.3:p.Val867=
ENST00000348423.8:c.2253A>C	ENSP00000343672.4:p.Val751=
ENST00000360497.4:c.2436A>C	ENSP00000353687.4:p.Val812=
ENST00000532133.5:c.2367A>C	ENSP00000435574.1:p.Val789=
ENST00000532184.1:n.593A>C
XM_006718898.2:c.2526A>C	XP_006718961.1:p.Val842=
XM_011542968.1:c.2436A>C	XP_011541270.1:p.Val812=
XM_011542968.3:c.2436A>C	XP_011541270.1:p.Val812=
XM_017018221.2:c.2253A>C	XP_016873710.1:p.Val751=
XR_001747948.2:n.2958A>C