This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA10617442
Gene: TMEM43 HGNC NCBI
ClinVar RCV:
RCV000261586
RCV000272367
RCV001712077
ClinVar Variation:
343512
dbSNP:
116757981
gnomAD v2:
3:14183512 G / A
gnomAD v3:
3:14142012 G / A
gnomAD v4:
chr3-14142012-G-A
Joint Max Group AF 0.07851273 (AFR)
Genomes Max Group AF 0.07725618 (AFR)
Exomes Max Group AF 0.07964892 (AFR)
MyVariant.info:
GRCh38 chr3:g.14142012G>A
GRCh37 chr3:g.14183512G>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14142012G>A , CM000665.2:g.14142012G>A GRCh38
NC_000003.11:g.14183512G>A , CM000665.1:g.14183512G>A GRCh37
NC_000003.10:g.14158513G>A NCBI36
NG_008975.1:g.22073G>A , LRG_435:g.22073G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*1450G>A ENSP00000395617.1:n.*1450G>A
ENST00000306077.5:c.*217G>A MANE Select ENSP00000303992.5:n.*217G>A
ENST00000306077.4:c.*217G>A ENSP00000303992.4:n.*217G>A
ENST00000601399.3:n.327+2715G>A
ENST00000608606.1:c.236+2715G>A
ENST00000626721.1:n.226+59G>A
NM_024334.2:c.*217G>A , LRG_435t1:c.*217G>A NP_077310.1:n.*217G>A
XM_011534109.1:c.*217G>A XP_011532411.1:n.*217G>A
XM_017007176.2:c.*217G>A XP_016862665.1:n.*217G>A
NM_024334.3:c.*217G>A MANE Select NP_077310.1:n.*217G>A
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