Canonical Allele Identifier: CA2742479662

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791258_11791259dup , CM000663.2:g.11791258_11791259dup	GRCh38
NC_000001.10:g.11851315_11851316dup , CM000663.1:g.11851315_11851316dup	GRCh37
NC_000001.9:g.11773902_11773903dup	NCBI36
NG_013351.1:g.19849_19850dup , LRG_726:g.19849_19850dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1827_1828dup	ENSP00000365770.1:p.Ile610ArgfsTer7
ENST00000376590.9:c.1704_1705dup MANE Select	ENSP00000365775.3:p.Ile569ArgfsTer7
ENST00000376592.6:c.1704_1705dup	ENSP00000365777.1:p.Ile569ArgfsTer7
ENST00000423400.7:c.1824_1825dup	ENSP00000398908.3:p.Ile609ArgfsTer7
ENST00000641407.1:c.1704_1705dup	ENSP00000493098.1:p.Ile569ArgfsTer7
ENST00000641446.1:c.*163_*164dup	ENSP00000493262.1:n.*163_*164dup
ENST00000641747.1:c.*1216_*1217dup	ENSP00000493116.1:n.*1216_*1217dup
ENST00000641759.1:n.2073_2074dup
ENST00000641805.1:n.2221_2222dup
ENST00000641820.1:c.969_970dup	ENSP00000492937.1:p.Ile324ArgfsTer7
ENST00000376583.7:c.1827_1828dup	ENSP00000365767.3:p.Ile610ArgfsTer7
ENST00000376585.5:c.1827_1828dup	ENSP00000365770.1:p.Ile610ArgfsTer7
ENST00000376590.7:c.1704_1705dup	ENSP00000365775.3:p.Ile569ArgfsTer7
ENST00000376592.5:c.1704_1705dup	ENSP00000365777.1:p.Ile569ArgfsTer7
NM_005957.4:c.1704_1705dup , LRG_726t1:c.1704_1705dup	NP_005948.3:p.Ile569ArgfsTer7
XM_005263458.2:c.1827_1828dup	XP_005263515.1:p.Ile610ArgfsTer7
XM_005263460.3:c.1704_1705dup	XP_005263517.1:p.Ile569ArgfsTer7
XM_005263461.3:c.1704_1705dup	XP_005263518.1:p.Ile569ArgfsTer7
XM_005263462.3:c.1704_1705dup	XP_005263519.1:p.Ile569ArgfsTer7
XM_005263463.2:c.1458_1459dup	XP_005263520.1:p.Ile487ArgfsTer7
XM_011541495.1:c.1824_1825dup	XP_011539797.1:p.Ile609ArgfsTer7
XM_011541496.1:c.1827_1828dup	XP_011539798.1:p.Ile610ArgfsTer7
NM_001330358.1:c.1827_1828dup	NP_001317287.1:p.Ile610ArgfsTer7
XM_005263460.5:c.1704_1705dup	XP_005263517.1:p.Ile569ArgfsTer7
XM_005263462.4:c.1704_1705dup	XP_005263519.1:p.Ile569ArgfsTer7
XM_005263463.4:c.1458_1459dup	XP_005263520.1:p.Ile487ArgfsTer7
XM_011541495.3:c.1824_1825dup	XP_011539797.1:p.Ile609ArgfsTer7
XM_011541496.3:c.1827_1828dup	XP_011539798.1:p.Ile610ArgfsTer7
XM_017001328.2:c.1827_1828dup	XP_016856817.1:p.Ile610ArgfsTer7
XM_024447198.1:c.1458_1459dup	XP_024302966.1:p.Ile487ArgfsTer7
XR_002956640.1:n.2805_2806dup
NM_005957.5:c.1704_1705dup MANE Select	NP_005948.3:p.Ile569ArgfsTer7
NM_001330358.2:c.1827_1828dup	NP_001317287.1:p.Ile610ArgfsTer7