Canonical Allele Identifier: CA6244377
Gene: TRPC6 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.101489019G>A
GRCh37 chr11:g.101359750G>A
Revel Score:
ENST00000344327 (MANE Select) 0.211
ENST00000532133 0.211
gnomAD v2:
11:101359750 G / A
gnomAD v3:
11:101489019 G / A
gnomAD v4:
chr11-101489019-G-A
Joint Max Group AF 0.12156865 (NFE)
Genomes Max Group AF 0.11863691 (NFE)
Exomes Max Group AF 0.12163006 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101489019G>A , CM000673.2:g.101489019G>A GRCh38
NC_000011.9:g.101359750G>A , CM000673.1:g.101359750G>A GRCh37
NC_000011.8:g.100864960G>A NCBI36
NG_011476.1:g.99910C>T
NG_011476.2:g.99910C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344327.8:c.1211C>T MANE Select ENSP00000340913.3:p.Ala404Val
ENST00000344327.7:c.1211C>T ENSP00000340913.3:p.Ala404Val
ENST00000348423.8:c.946-5854C>T ENSP00000343672.4:n.946-5854C>T
ENST00000360497.4:c.1128+2537C>T ENSP00000353687.4:n.1128+2537C>T
ENST00000532133.5:c.1211C>T ENSP00000435574.1:p.Ala404Val
NM_004621.5:c.1211C>T NP_004612.2:p.Ala404Val
XM_006718898.2:c.1211C>T XP_006718961.1:p.Ala404Val
XM_011542968.1:c.1046C>T XP_011541270.1:p.Ala349Val
XM_011542969.1:c.1211C>T XP_011541271.1:p.Ala404Val
XM_011542968.3:c.1046C>T XP_011541270.1:p.Ala349Val
XM_017018221.2:c.946-5854C>T XP_016873710.1:n.946-5854C>T
XR_001747948.2:n.1567C>T
NM_004621.6:c.1211C>T MANE Select NP_004612.2:p.Ala404Val
Search 100 bp 5'
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