Canonical Allele Identifier: CA788676

Gene: MFSD2A

Linked Data

• dbSNP Id: rs773314294
• ExAC: 1:40431178 C / T
• gnomAD v2: 1-40431178-C-T
• gnomAD v4: 1-39965506-C-T
• MyVariant Identifiers: chr1:g.40431178C>T (hg19) ; chr1:g.39965506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965506C>T , CM000663.2:g.39965506C>T	GRCh38
NC_000001.10:g.40431178C>T , CM000663.1:g.40431178C>T	GRCh37
NC_000001.9:g.40203765C>T	NCBI36
NG_053084.1:g.15395C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.513C>T MANE Select	ENSP00000361898.6:p.Phe171=
ENST00000372809.5:c.552C>T	ENSP00000361895.5:p.Phe184=
ENST00000372811.9:c.513C>T	ENSP00000361898.5:p.Phe171=
ENST00000420632.6:c.45C>T	ENSP00000391261.2:p.Phe15=
ENST00000434861.5:c.507C>T	ENSP00000407606.1:p.Phe169=
ENST00000469745.5:n.425C>T
ENST00000480630.5:n.1160C>T
ENST00000483824.5:n.648C>T
NM_001136493.2:c.552C>T	NP_001129965.1:p.Phe184=
NM_001287808.1:c.45C>T	NP_001274737.1:p.Phe15=
NM_001287809.1:c.402C>T	NP_001274738.1:p.Phe134=
NM_032793.4:c.513C>T	NP_116182.2:p.Phe171=
NR_109896.1:n.694C>T
XM_005271285.1:c.507C>T	XP_005271342.1:p.Phe169=
XM_011542312.1:c.513C>T	XP_011540614.1:p.Phe171=
XR_946783.1:n.661C>T
NM_001349821.1:c.507C>T	NP_001336750.1:p.Phe169=
NM_001349822.1:c.513C>T	NP_001336751.1:p.Phe171=
NM_001349823.1:c.168C>T	NP_001336752.1:p.Phe56=
NM_001136493.3:c.552C>T	NP_001129965.1:p.Phe184=
NM_001287809.2:c.402C>T	NP_001274738.1:p.Phe134=
NM_001349821.2:c.507C>T	NP_001336750.1:p.Phe169=
NM_001349822.2:c.513C>T	NP_001336751.1:p.Phe171=
NM_001349823.2:c.168C>T	NP_001336752.1:p.Phe56=
NM_032793.5:c.513C>T MANE Select	NP_116182.2:p.Phe171=
NR_109896.2:n.661C>T
NM_001287808.2:c.45C>T	NP_001274737.1:p.Phe15=