Canonical Allele Identifier: CA2762531

Gene: TMEM44

Linked Data

• ClinVar Variation Id: 3179489
• ClinVar RCV Id: RCV004467843
• dbSNP Id: rs776238389
• ExAC: 3:194325074 C / T
• gnomAD v2: 3-194325074-C-T
• gnomAD v3: 3-194604345-C-T
• gnomAD v4: 3-194604345-C-T
• MyVariant Identifiers: chr3:g.194325074C>T (hg19) ; chr3:g.194604345C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604345C>T , CM000665.2:g.194604345C>T	GRCh38
NC_000003.11:g.194325074C>T , CM000665.1:g.194325074C>T	GRCh37
NC_000003.10:g.195806363C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1118G>A MANE Select	ENSP00000333355.6:p.Arg373Gln
ENST00000347147.8:c.1118G>A	ENSP00000333355.6:p.Arg373Gln
ENST00000381975.7:c.1114G>A	ENSP00000371402.3:p.Gly372Arg
ENST00000392432.6:c.1259G>A	ENSP00000376227.2:p.Arg420Gln
ENST00000419280.5:c.*414G>A	ENSP00000414077.1:n.*414G>A
ENST00000429560.1:c.310G>A	ENSP00000403053.1:p.Gly104Arg
ENST00000432352.5:c.392G>A	ENSP00000409963.1:p.Arg131Gln
ENST00000452358.5:c.617G>A	ENSP00000414333.1:p.Arg206Gln
ENST00000467284.1:n.164G>A
ENST00000473092.5:c.1118G>A	ENSP00000418674.1:p.Arg373Gln
ENST00000477651.5:n.882G>A
NM_001011655.2:c.1118G>A	NP_001011655.1:p.Arg373Gln
NM_001166305.1:c.1259G>A	NP_001159777.1:p.Arg420Gln
NM_001166306.1:c.1114G>A	NP_001159778.1:p.Gly372Arg
NM_138399.4:c.1118G>A	NP_612408.3:p.Arg373Gln
XM_005269371.3:c.1118G>A	XP_005269428.1:p.Arg373Gln
XM_011513318.1:c.1268G>A	XP_011511620.1:p.Arg423Gln
XM_011513319.1:c.1205G>A	XP_011511621.1:p.Arg402Gln
XM_011513320.1:c.1316G>A	XP_011511622.1:p.Arg439Gln
XM_011513321.1:c.1184G>A	XP_011511623.1:p.Arg395Gln
XM_011513322.1:c.1175G>A	XP_011511624.1:p.Arg392Gln
XM_011513323.1:c.1013G>A	XP_011511625.1:p.Arg338Gln
XM_005269371.4:c.1118G>A	XP_005269428.1:p.Arg373Gln
XM_011513318.2:c.1268G>A	XP_011511620.1:p.Arg423Gln
XM_011513319.2:c.1205G>A	XP_011511621.1:p.Arg402Gln
XM_011513320.2:c.1316G>A	XP_011511622.1:p.Arg439Gln
XM_011513321.2:c.1184G>A	XP_011511623.1:p.Arg395Gln
XM_011513322.2:c.1175G>A	XP_011511624.1:p.Arg392Gln
XM_017007517.1:c.1127G>A	XP_016863006.1:p.Arg376Gln
XM_017007518.1:c.1127G>A	XP_016863007.1:p.Arg376Gln
NM_001011655.3:c.1118G>A MANE Select	NP_001011655.1:p.Arg373Gln
NM_001166305.2:c.1259G>A	NP_001159777.1:p.Arg420Gln
NM_001166306.2:c.1114G>A	NP_001159778.1:p.Gly372Arg
NM_138399.5:c.1118G>A	NP_612408.3:p.Arg373Gln