Canonical Allele Identifier: CA050959
Gene: TMEM43 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.14141613C>T
GRCh37 chr3:g.14183113C>T
gnomAD v2:
3:14183113 C / T
gnomAD v3:
3:14141613 C / T
gnomAD v4:
chr3-14141613-C-T
Joint Max Group AF 0.00000542 (NFE)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00000531 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141613C>T , CM000665.2:g.14141613C>T GRCh38
NC_000003.11:g.14183113C>T , CM000665.1:g.14183113C>T GRCh37
NC_000003.10:g.14158114C>T NCBI36
NG_008975.1:g.21674C>T , LRG_435:g.21674C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*1051C>T ENSP00000395617.1:n.*1051C>T
ENST00000306077.5:c.1021C>T MANE Select ENSP00000303992.5:p.Arg341Ter
ENST00000306077.4:c.1021C>T ENSP00000303992.4:p.Arg341Ter
ENST00000601399.3:n.327+2316C>T
ENST00000608606.1:c.236+2316C>T
NM_024334.2:c.1021C>T , LRG_435t1:c.1021C>T NP_077310.1:p.Arg341Ter
XM_011534109.1:c.916C>T XP_011532411.1:p.Arg306Ter
XM_017007176.2:c.916C>T XP_016862665.1:p.Arg306Ter
NM_024334.3:c.1021C>T MANE Select NP_077310.1:p.Arg341Ter
Search 100 bp 5'
Search 100 bp 3'