Canonical Allele Identifier: CA788678

Gene: MFSD2A

Linked Data

• ClinVar Variation Id: 2168852
• ClinVar RCV Id: RCV003082777
• dbSNP Id: rs765969982
• ExAC: 1:40431187 C / T
• gnomAD v2: 1-40431187-C-T
• gnomAD v3: 1-39965515-C-T
• gnomAD v4: 1-39965515-C-T
• MyVariant Identifiers: chr1:g.40431187C>T (hg19) ; chr1:g.39965515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965515C>T , CM000663.2:g.39965515C>T	GRCh38
NC_000001.10:g.40431187C>T , CM000663.1:g.40431187C>T	GRCh37
NC_000001.9:g.40203774C>T	NCBI36
NG_053084.1:g.15404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.522C>T MANE Select	ENSP00000361898.6:p.Thr174=
ENST00000372809.5:c.561C>T	ENSP00000361895.5:p.Thr187=
ENST00000372811.9:c.522C>T	ENSP00000361898.5:p.Thr174=
ENST00000420632.6:c.54C>T	ENSP00000391261.2:p.Thr18=
ENST00000434861.5:c.516C>T	ENSP00000407606.1:p.Thr172=
ENST00000469745.5:n.434C>T
ENST00000480630.5:n.1169C>T
ENST00000483824.5:n.657C>T
NM_001136493.2:c.561C>T	NP_001129965.1:p.Thr187=
NM_001287808.1:c.54C>T	NP_001274737.1:p.Thr18=
NM_001287809.1:c.411C>T	NP_001274738.1:p.Thr137=
NM_032793.4:c.522C>T	NP_116182.2:p.Thr174=
NR_109896.1:n.703C>T
XM_005271285.1:c.516C>T	XP_005271342.1:p.Thr172=
XM_011542312.1:c.522C>T	XP_011540614.1:p.Thr174=
XR_946783.1:n.670C>T
NM_001349821.1:c.516C>T	NP_001336750.1:p.Thr172=
NM_001349822.1:c.522C>T	NP_001336751.1:p.Thr174=
NM_001349823.1:c.177C>T	NP_001336752.1:p.Thr59=
NM_001136493.3:c.561C>T	NP_001129965.1:p.Thr187=
NM_001287809.2:c.411C>T	NP_001274738.1:p.Thr137=
NM_001349821.2:c.516C>T	NP_001336750.1:p.Thr172=
NM_001349822.2:c.522C>T	NP_001336751.1:p.Thr174=
NM_001349823.2:c.177C>T	NP_001336752.1:p.Thr59=
NM_032793.5:c.522C>T MANE Select	NP_116182.2:p.Thr174=
NR_109896.2:n.670C>T
NM_001287808.2:c.54C>T	NP_001274737.1:p.Thr18=