Canonical Allele Identifier: CA2643301270

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11790910-T-TACCCCCGCACACACGCACACATGCACACACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790913_11790944dup , CM000663.2:g.11790913_11790944dup	GRCh38
NC_000001.10:g.11850970_11851001dup , CM000663.1:g.11850970_11851001dup	GRCh37
NC_000001.9:g.11773557_11773588dup	NCBI36
NG_013351.1:g.20162_20193dup , LRG_726:g.20162_20193dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1876-44_1876-13dup	ENSP00000365770.1:n.1876-44_1876-13dup
ENST00000376590.9:c.1753-44_1753-13dup MANE Select	ENSP00000365775.3:n.1753-44_1753-13dup
ENST00000376592.6:c.1753-44_1753-13dup	ENSP00000365777.1:n.1753-44_1753-13dup
ENST00000423400.7:c.1873-44_1873-13dup	ENSP00000398908.3:n.1873-44_1873-13dup
ENST00000641407.1:c.1753-226_1753-195dup	ENSP00000493098.1:n.1753-226_1753-195dup
ENST00000641446.1:c.*212-44_*212-13dup	ENSP00000493262.1:n.*212-44_*212-13dup
ENST00000641747.1:c.*1265-44_*1265-13dup	ENSP00000493116.1:n.*1265-44_*1265-13dup
ENST00000641759.1:n.2122-44_2122-13dup
ENST00000641805.1:n.2270-226_2270-195dup
ENST00000641820.1:c.1018-44_1018-13dup	ENSP00000492937.1:n.1018-44_1018-13dup
ENST00000376583.7:c.1876-44_1876-13dup	ENSP00000365767.3:n.1876-44_1876-13dup
ENST00000376585.5:c.1876-44_1876-13dup	ENSP00000365770.1:n.1876-44_1876-13dup
ENST00000376590.7:c.1753-44_1753-13dup	ENSP00000365775.3:n.1753-44_1753-13dup
ENST00000376592.5:c.1753-44_1753-13dup	ENSP00000365777.1:n.1753-44_1753-13dup
NM_005957.4:c.1753-44_1753-13dup , LRG_726t1:c.1753-44_1753-13dup	NP_005948.3:n.1753-44_1753-13dup
XM_005263458.2:c.1876-44_1876-13dup	XP_005263515.1:n.1876-44_1876-13dup
XM_005263460.3:c.1753-44_1753-13dup	XP_005263517.1:n.1753-44_1753-13dup
XM_005263461.3:c.1753-44_1753-13dup	XP_005263518.1:n.1753-44_1753-13dup
XM_005263462.3:c.1753-44_1753-13dup	XP_005263519.1:n.1753-44_1753-13dup
XM_005263463.2:c.1507-44_1507-13dup	XP_005263520.1:n.1507-44_1507-13dup
XM_011541495.1:c.1873-44_1873-13dup	XP_011539797.1:n.1873-44_1873-13dup
XM_011541496.1:c.1876-226_1876-195dup	XP_011539798.1:n.1876-226_1876-195dup
NM_001330358.1:c.1876-44_1876-13dup	NP_001317287.1:n.1876-44_1876-13dup
XM_005263460.5:c.1753-44_1753-13dup	XP_005263517.1:n.1753-44_1753-13dup
XM_005263462.4:c.1753-44_1753-13dup	XP_005263519.1:n.1753-44_1753-13dup
XM_005263463.4:c.1507-44_1507-13dup	XP_005263520.1:n.1507-44_1507-13dup
XM_011541495.3:c.1873-44_1873-13dup	XP_011539797.1:n.1873-44_1873-13dup
XM_011541496.3:c.1876-226_1876-195dup	XP_011539798.1:n.1876-226_1876-195dup
XM_017001328.2:c.1876-194_1876-163dup	XP_016856817.1:n.1876-194_1876-163dup
XM_024447198.1:c.1507-44_1507-13dup	XP_024302966.1:n.1507-44_1507-13dup
XR_002956640.1:n.2854-226_2854-195dup
NM_005957.5:c.1753-44_1753-13dup MANE Select	NP_005948.3:n.1753-44_1753-13dup
NM_001330358.2:c.1876-44_1876-13dup	NP_001317287.1:n.1876-44_1876-13dup