Canonical Allele Identifier: CA382450724
Community Standard Title: NM_004621.6(TRPC6):c.368C>G (p.Ser123Ter)
Gene: TRPC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101504601G>C , CM000673.2:g.101504601G>C GRCh38
NC_000011.9:g.101375332G>C , CM000673.1:g.101375332G>C GRCh37
NC_000011.8:g.100880542G>C NCBI36
NG_011476.1:g.84328C>G
NG_011476.2:g.84328C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004621.6:c.368C>G MANE Select NP_004612.2:p.Ser123Ter
ENST00000344327.8:c.368C>G MANE Select ENSP00000340913.3:p.Ser123Ter
NM_004621.5:c.368C>G NP_004612.2:p.Ser123Ter
ENST00000344327.7:c.368C>G ENSP00000340913.3:p.Ser123Ter
ENST00000348423.8:c.368C>G ENSP00000343672.4:p.Ser123Ter
ENST00000360497.4:c.368C>G ENSP00000353687.4:p.Ser123Ter
ENST00000532133.5:c.368C>G ENSP00000435574.1:p.Ser123Ter
XM_006718898.2:c.368C>G XP_006718961.1:p.Ser123Ter
XM_011542968.1:c.203C>G XP_011541270.1:p.Ser68Ter
XM_011542968.3:c.203C>G XP_011541270.1:p.Ser68Ter
XM_011542969.1:c.368C>G XP_011541271.1:p.Ser123Ter
XM_017018221.2:c.368C>G XP_016873710.1:p.Ser123Ter
XR_001747948.2:n.724C>G