Canonical Allele Identifier: CA382440468

Gene: TRPC6

Linked Data

• MyVariant Identifiers: chr11:g.101344466A>T (hg19) ; chr11:g.101473735A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101473735A>T , CM000673.2:g.101473735A>T	GRCh38
NC_000011.9:g.101344466A>T , CM000673.1:g.101344466A>T	GRCh37
NC_000011.8:g.100849676A>T	NCBI36
NG_011476.1:g.115194T>A
NG_011476.2:g.115194T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344327.8:c.1783T>A MANE Select	ENSP00000340913.3:p.Ser595Thr
ENST00000344327.7:c.1783T>A	ENSP00000340913.3:p.Ser595Thr
ENST00000348423.8:c.1435T>A	ENSP00000343672.4:p.Ser479Thr
ENST00000360497.4:c.1618T>A	ENSP00000353687.4:p.Ser540Thr
ENST00000532133.5:c.1549T>A	ENSP00000435574.1:p.Ser517Thr
NM_004621.5:c.1783T>A	NP_004612.2:p.Ser595Thr
XM_006718898.2:c.1783T>A	XP_006718961.1:p.Ser595Thr
XM_011542968.1:c.1618T>A	XP_011541270.1:p.Ser540Thr
XM_011542969.1:c.1783T>A	XP_011541271.1:p.Ser595Thr
XM_011542968.3:c.1618T>A	XP_011541270.1:p.Ser540Thr
XM_017018221.2:c.1435T>A	XP_016873710.1:p.Ser479Thr
XR_001747948.2:n.2139T>A
NM_004621.6:c.1783T>A MANE Select	NP_004612.2:p.Ser595Thr