Canonical Allele Identifier: CA739745
Gene: IQCC HGNC NCBI
TMEM234 HGNC NCBI

Linked Data

dbSNP Id: rs150341307
gnomAD v2: 1-32673514-G-C
gnomAD v3: 1-32207913-G-C
gnomAD v4: 1-32207913-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32207913G>C , CM000663.2:g.32207913G>C GRCh38
NC_000001.10:g.32673514G>C , CM000663.1:g.32673514G>C GRCh37
NC_000001.9:g.32446101G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000291358.11:c.1232G>C (IQCC) MANE Select ENSP00000291358.6:p.Arg411Thr
ENST00000291358.10:c.1232G>C (IQCC) ENSP00000291358.6:p.Arg411Thr
ENST00000537469.2:c.1472G>C (IQCC) ENSP00000442291.1:p.Arg491Thr
ENST00000617816.1:n.1454G>C (IQCC)
NM_001160042.1:c.1472G>C (IQCC) NP_001153514.1:p.Arg491Thr
NM_018134.2:c.1232G>C (IQCC) NP_060604.2:p.Arg411Thr
XM_005271044.3:c.*1532+1382C>G (TMEM234) XP_005271101.1:n.*1532+1382C>G
XM_006710776.2:c.*1128+1382C>G (TMEM234) XP_006710839.1:n.*1128+1382C>G
XM_011541793.1:c.*882+1382C>G (TMEM234) XP_011540095.1:n.*882+1382C>G
XM_011541794.1:c.*898+1382C>G (TMEM234) XP_011540096.1:n.*898+1382C>G
XM_011541795.2:c.*1836+1382C>G (TMEM234) XP_011540097.1:n.*1836+1382C>G
XM_017001814.1:c.*541+1382C>G (TMEM234) XP_016857303.1:n.*541+1382C>G
XM_017001815.1:c.*882+1382C>G (TMEM234) XP_016857304.1:n.*882+1382C>G
XM_017001827.1:c.*1969+1382C>G (TMEM234) XP_016857316.1:n.*1969+1382C>G
XM_017001828.1:c.*1239+1382C>G (TMEM234) XP_016857317.1:n.*1239+1382C>G
NM_001160042.2:c.1472G>C (IQCC) NP_001153514.1:p.Arg491Thr
NM_018134.3:c.1232G>C (IQCC) MANE Select NP_060604.2:p.Arg411Thr