Canonical Allele Identifier: CA2762535

Gene: TMEM44

Linked Data

• ClinVar Variation Id: 2543855
• ClinVar RCV Id: RCV004314566
• dbSNP Id: rs142364954
• ExAC: 3:194325087 C / T
• gnomAD v2: 3-194325087-C-T
• gnomAD v3: 3-194604358-C-T
• gnomAD v4: 3-194604358-C-T
• MyVariant Identifiers: chr3:g.194325087C>T (hg19) ; chr3:g.194604358C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604358C>T , CM000665.2:g.194604358C>T	GRCh38
NC_000003.11:g.194325087C>T , CM000665.1:g.194325087C>T	GRCh37
NC_000003.10:g.195806376C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1105G>A MANE Select	ENSP00000333355.6:p.Val369Ile
ENST00000347147.8:c.1105G>A	ENSP00000333355.6:p.Val369Ile
ENST00000381975.7:c.1101G>A	ENSP00000371402.3:p.Pro367=
ENST00000392432.6:c.1246G>A	ENSP00000376227.2:p.Val416Ile
ENST00000419280.5:c.*401G>A	ENSP00000414077.1:n.*401G>A
ENST00000429560.1:c.297G>A	ENSP00000403053.1:p.Pro99=
ENST00000432352.5:c.379G>A	ENSP00000409963.1:p.Val127Ile
ENST00000452358.5:c.604G>A	ENSP00000414333.1:p.Val202Ile
ENST00000467284.1:n.151G>A
ENST00000473092.5:c.1105G>A	ENSP00000418674.1:p.Val369Ile
ENST00000477651.5:n.869G>A
NM_001011655.2:c.1105G>A	NP_001011655.1:p.Val369Ile
NM_001166305.1:c.1246G>A	NP_001159777.1:p.Val416Ile
NM_001166306.1:c.1101G>A	NP_001159778.1:p.Pro367=
NM_138399.4:c.1105G>A	NP_612408.3:p.Val369Ile
XM_005269371.3:c.1105G>A	XP_005269428.1:p.Val369Ile
XM_011513318.1:c.1255G>A	XP_011511620.1:p.Val419Ile
XM_011513319.1:c.1192G>A	XP_011511621.1:p.Val398Ile
XM_011513320.1:c.1303G>A	XP_011511622.1:p.Val435Ile
XM_011513321.1:c.1171G>A	XP_011511623.1:p.Val391Ile
XM_011513322.1:c.1162G>A	XP_011511624.1:p.Val388Ile
XM_011513323.1:c.1000G>A	XP_011511625.1:p.Val334Ile
XM_005269371.4:c.1105G>A	XP_005269428.1:p.Val369Ile
XM_011513318.2:c.1255G>A	XP_011511620.1:p.Val419Ile
XM_011513319.2:c.1192G>A	XP_011511621.1:p.Val398Ile
XM_011513320.2:c.1303G>A	XP_011511622.1:p.Val435Ile
XM_011513321.2:c.1171G>A	XP_011511623.1:p.Val391Ile
XM_011513322.2:c.1162G>A	XP_011511624.1:p.Val388Ile
XM_017007517.1:c.1114G>A	XP_016863006.1:p.Val372Ile
XM_017007518.1:c.1114G>A	XP_016863007.1:p.Val372Ile
NM_001011655.3:c.1105G>A MANE Select	NP_001011655.1:p.Val369Ile
NM_001166305.2:c.1246G>A	NP_001159777.1:p.Val416Ile
NM_001166306.2:c.1101G>A	NP_001159778.1:p.Pro367=
NM_138399.5:c.1105G>A	NP_612408.3:p.Val369Ile