Canonical Allele Identifier: CA117977
Gene: TRPC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 6151
ClinVar RCV Id: RCV000006526
dbSNP Id: rs121434390

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101504634G>T , CM000673.2:g.101504634G>T GRCh38
NC_000011.9:g.101375365G>T , CM000673.1:g.101375365G>T GRCh37
NC_000011.8:g.100880575G>T NCBI36
NG_011476.1:g.84295C>A
NG_011476.2:g.84295C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000344327.8:c.335C>A MANE Select ENSP00000340913.3:p.Pro112Gln
ENST00000344327.7:c.335C>A ENSP00000340913.3:p.Pro112Gln
ENST00000348423.8:c.335C>A ENSP00000343672.4:p.Pro112Gln
ENST00000360497.4:c.335C>A ENSP00000353687.4:p.Pro112Gln
ENST00000532133.5:c.335C>A ENSP00000435574.1:p.Pro112Gln
NM_004621.5:c.335C>A NP_004612.2:p.Pro112Gln
XM_006718898.2:c.335C>A XP_006718961.1:p.Pro112Gln
XM_011542968.1:c.170C>A XP_011541270.1:p.Pro57Gln
XM_011542969.1:c.335C>A XP_011541271.1:p.Pro112Gln
XM_011542968.3:c.170C>A XP_011541270.1:p.Pro57Gln
XM_017018221.2:c.335C>A XP_016873710.1:p.Pro112Gln
XR_001747948.2:n.691C>A
NM_004621.6:c.335C>A MANE Select NP_004612.2:p.Pro112Gln