Canonical Allele Identifier: CA432552992
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 1983305
ClinVar RCV Id: RCV002795248
dbSNP Id: rs1158178415
gnomAD v2: 3-14183178-G-A
gnomAD v4: 3-14141678-G-A
MyVariant Identifiers: chr3:g.14183178G>A (hg19) chr3:g.14141678G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141678G>A , CM000665.2:g.14141678G>A GRCh38
NC_000003.11:g.14183178G>A , CM000665.1:g.14183178G>A GRCh37
NC_000003.10:g.14158179G>A NCBI36
NG_008975.1:g.21739G>A , LRG_435:g.21739G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*1116G>A ENSP00000395617.1:n.*1116G>A
ENST00000306077.5:c.1086G>A MANE Select ENSP00000303992.5:p.Leu362=
ENST00000306077.4:c.1086G>A ENSP00000303992.4:p.Leu362=
ENST00000601399.3:n.327+2381G>A
ENST00000608606.1:c.236+2381G>A
NM_024334.2:c.1086G>A , LRG_435t1:c.1086G>A NP_077310.1:p.Leu362=
XM_011534109.1:c.981G>A XP_011532411.1:p.Leu327=
XM_017007176.2:c.981G>A XP_016862665.1:p.Leu327=
NM_024334.3:c.1086G>A MANE Select NP_077310.1:p.Leu362=
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