Canonical Allele Identifier: CA2643301958

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11791049-T-TAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791051_11791054dup , CM000663.2:g.11791051_11791054dup	GRCh38
NC_000001.10:g.11851108_11851111dup , CM000663.1:g.11851108_11851111dup	GRCh37
NC_000001.9:g.11773695_11773698dup	NCBI36
NG_013351.1:g.20051_20054dup , LRG_726:g.20051_20054dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1876-155_1876-152dup	ENSP00000365770.1:n.1876-155_1876-152dup
ENST00000376590.9:c.1753-155_1753-152dup MANE Select	ENSP00000365775.3:n.1753-155_1753-152dup
ENST00000376592.6:c.1753-155_1753-152dup	ENSP00000365777.1:n.1753-155_1753-152dup
ENST00000423400.7:c.1873-155_1873-152dup	ENSP00000398908.3:n.1873-155_1873-152dup
ENST00000641407.1:c.1752+154_1752+157dup	ENSP00000493098.1:n.1752+154_1752+157dup
ENST00000641446.1:c.*212-155_*212-152dup	ENSP00000493262.1:n.*212-155_*212-152dup
ENST00000641747.1:c.*1265-155_*1265-152dup	ENSP00000493116.1:n.*1265-155_*1265-152dup
ENST00000641759.1:n.2122-155_2122-152dup
ENST00000641805.1:n.2269+154_2269+157dup
ENST00000641820.1:c.1018-155_1018-152dup	ENSP00000492937.1:n.1018-155_1018-152dup
ENST00000376583.7:c.1876-155_1876-152dup	ENSP00000365767.3:n.1876-155_1876-152dup
ENST00000376585.5:c.1876-155_1876-152dup	ENSP00000365770.1:n.1876-155_1876-152dup
ENST00000376590.7:c.1753-155_1753-152dup	ENSP00000365775.3:n.1753-155_1753-152dup
ENST00000376592.5:c.1753-155_1753-152dup	ENSP00000365777.1:n.1753-155_1753-152dup
NM_005957.4:c.1753-155_1753-152dup , LRG_726t1:c.1753-155_1753-152dup	NP_005948.3:n.1753-155_1753-152dup
XM_005263458.2:c.1876-155_1876-152dup	XP_005263515.1:n.1876-155_1876-152dup
XM_005263460.3:c.1753-155_1753-152dup	XP_005263517.1:n.1753-155_1753-152dup
XM_005263461.3:c.1753-155_1753-152dup	XP_005263518.1:n.1753-155_1753-152dup
XM_005263462.3:c.1753-155_1753-152dup	XP_005263519.1:n.1753-155_1753-152dup
XM_005263463.2:c.1507-155_1507-152dup	XP_005263520.1:n.1507-155_1507-152dup
XM_011541495.1:c.1873-155_1873-152dup	XP_011539797.1:n.1873-155_1873-152dup
XM_011541496.1:c.1875+154_1875+157dup	XP_011539798.1:n.1875+154_1875+157dup
NM_001330358.1:c.1876-155_1876-152dup	NP_001317287.1:n.1876-155_1876-152dup
XM_005263460.5:c.1753-155_1753-152dup	XP_005263517.1:n.1753-155_1753-152dup
XM_005263462.4:c.1753-155_1753-152dup	XP_005263519.1:n.1753-155_1753-152dup
XM_005263463.4:c.1507-155_1507-152dup	XP_005263520.1:n.1507-155_1507-152dup
XM_011541495.3:c.1873-155_1873-152dup	XP_011539797.1:n.1873-155_1873-152dup
XM_011541496.3:c.1875+154_1875+157dup	XP_011539798.1:n.1875+154_1875+157dup
XM_017001328.2:c.1875+154_1875+157dup	XP_016856817.1:n.1875+154_1875+157dup
XM_024447198.1:c.1507-155_1507-152dup	XP_024302966.1:n.1507-155_1507-152dup
XR_002956640.1:n.2853+154_2853+157dup
NM_005957.5:c.1753-155_1753-152dup MANE Select	NP_005948.3:n.1753-155_1753-152dup
NM_001330358.2:c.1876-155_1876-152dup	NP_001317287.1:n.1876-155_1876-152dup