Canonical Allele Identifier: CA788681

Gene: MFSD2A

Linked Data

• ClinVar Variation Id: 740801
• ClinVar RCV Id: RCV000916902 ; RCV003923245
• dbSNP Id: rs115821410
• ExAC: 1:40431214 C / A
• gnomAD v2: 1-40431214-C-A
• gnomAD v3: 1-39965542-C-A
• gnomAD v4: 1-39965542-C-A
• MyVariant Identifiers: chr1:g.40431214C>A (hg19) ; chr1:g.39965542C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965542C>A , CM000663.2:g.39965542C>A	GRCh38
NC_000001.10:g.40431214C>A , CM000663.1:g.40431214C>A	GRCh37
NC_000001.9:g.40203801C>A	NCBI36
NG_053084.1:g.15431C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.549C>A MANE Select	ENSP00000361898.6:p.Thr183=
ENST00000372809.5:c.588C>A	ENSP00000361895.5:p.Thr196=
ENST00000372811.9:c.549C>A	ENSP00000361898.5:p.Thr183=
ENST00000420632.6:c.81C>A	ENSP00000391261.2:p.Thr27=
ENST00000434861.5:c.543C>A	ENSP00000407606.1:p.Thr181=
ENST00000469745.5:n.461C>A
ENST00000480630.5:n.1196C>A
ENST00000483824.5:n.684C>A
NM_001136493.2:c.588C>A	NP_001129965.1:p.Thr196=
NM_001287808.1:c.81C>A	NP_001274737.1:p.Thr27=
NM_001287809.1:c.438C>A	NP_001274738.1:p.Thr146=
NM_032793.4:c.549C>A	NP_116182.2:p.Thr183=
NR_109896.1:n.730C>A
XM_005271285.1:c.543C>A	XP_005271342.1:p.Thr181=
XM_011542312.1:c.549C>A	XP_011540614.1:p.Thr183=
XR_946783.1:n.697C>A
NM_001349821.1:c.543C>A	NP_001336750.1:p.Thr181=
NM_001349822.1:c.549C>A	NP_001336751.1:p.Thr183=
NM_001349823.1:c.204C>A	NP_001336752.1:p.Thr68=
NM_001136493.3:c.588C>A	NP_001129965.1:p.Thr196=
NM_001287809.2:c.438C>A	NP_001274738.1:p.Thr146=
NM_001349821.2:c.543C>A	NP_001336750.1:p.Thr181=
NM_001349822.2:c.549C>A	NP_001336751.1:p.Thr183=
NM_001349823.2:c.204C>A	NP_001336752.1:p.Thr68=
NM_032793.5:c.549C>A MANE Select	NP_116182.2:p.Thr183=
NR_109896.2:n.697C>A
NM_001287808.2:c.81C>A	NP_001274737.1:p.Thr27=