Canonical Allele Identifier: CA351536627
Gene: TMEM43 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.14141742C>A
GRCh37 chr3:g.14183242C>A
Revel Score:
ENST00000306077 (MANE Select) 0.066
gnomAD v3:
3:14141742 C / A
gnomAD v4:
chr3-14141742-C-A
Joint Max Group AF 2.8e-7 (NFE)
ClinVar RCV:
RCV004017034
ClinVar Variation:
3075516
dbSNP:
193922706
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141742C>A , CM000665.2:g.14141742C>A GRCh38
NC_000003.11:g.14183242C>A , CM000665.1:g.14183242C>A GRCh37
NC_000003.10:g.14158243C>A NCBI36
NG_008975.1:g.21803C>A , LRG_435:g.21803C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*1180C>A ENSP00000395617.1:n.*1180C>A
ENST00000306077.5:c.1150C>A MANE Select ENSP00000303992.5:p.Leu384Ile
ENST00000306077.4:c.1150C>A ENSP00000303992.4:p.Leu384Ile
ENST00000601399.3:n.327+2445C>A
ENST00000608606.1:c.236+2445C>A
ENST00000626721.1:n.15C>A
NM_024334.2:c.1150C>A , LRG_435t1:c.1150C>A NP_077310.1:p.Leu384Ile
XM_011534109.1:c.1045C>A XP_011532411.1:p.Leu349Ile
XM_017007176.2:c.1045C>A XP_016862665.1:p.Leu349Ile
NM_024334.3:c.1150C>A MANE Select NP_077310.1:p.Leu384Ile
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