Allele Registry

Canonical Allele Identifier: CA10581525

Gene: TRPC6 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr11:g.101453114A>G

GRCh37 chr11:g.101323845A>G

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000225047

ClinVar Variation:

236152

dbSNP:

878853180

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.101453114A>G , CM000673.2:g.101453114A>G	GRCh38
NC_000011.9:g.101323845A>G , CM000673.1:g.101323845A>G	GRCh37
NC_000011.8:g.100829055A>G	NCBI36
NG_011476.1:g.135815T>C
NG_011476.2:g.135815T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344327.8:c.2645-8T>C MANE Select	ENSP00000340913.3:n.2645-8T>C
ENST00000344327.7:c.2645-8T>C	ENSP00000340913.3:n.2645-8T>C
ENST00000348423.8:c.2297-8T>C	ENSP00000343672.4:n.2297-8T>C
ENST00000360497.4:c.2480-8T>C	ENSP00000353687.4:n.2480-8T>C
ENST00000532133.5:c.2411-8T>C	ENSP00000435574.1:n.2411-8T>C
NM_004621.5:c.2645-8T>C	NP_004612.2:n.2645-8T>C
XM_006718898.2:c.2570-8T>C	XP_006718961.1:n.2570-8T>C
XM_011542968.1:c.2480-8T>C	XP_011541270.1:n.2480-8T>C
XM_011542968.3:c.2480-8T>C	XP_011541270.1:n.2480-8T>C
XM_017018221.2:c.2297-8T>C	XP_016873710.1:n.2297-8T>C
XR_001747948.2:n.3002-8T>C
NM_004621.6:c.2645-8T>C MANE Select	NP_004612.2:n.2645-8T>C

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