Canonical Allele Identifier: CA521455268

Gene: MTHFR

Linked Data

• dbSNP Id: rs1557757328
• gnomAD v2: 1-11850989-T-TGCACACACACAC
• gnomAD v3: 1-11790932-T-TGCACACACACAC
• gnomAD v4: 1-11790932-T-TGCACACACACAC
• MyVariant Identifiers: chr1:g.11850989_11850990insGCACACACACAC (hg19) ; chr1:g.11790932_11790933insGCACACACACAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790933_11790944dup , CM000663.2:g.11790933_11790944dup	GRCh38
NC_000001.10:g.11850990_11851001dup , CM000663.1:g.11850990_11851001dup	GRCh37
NC_000001.9:g.11773577_11773588dup	NCBI36
NG_013351.1:g.20160_20171dup , LRG_726:g.20160_20171dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1876-46_1876-35dup	ENSP00000365770.1:n.1876-46_1876-35dup
ENST00000376590.9:c.1753-46_1753-35dup MANE Select	ENSP00000365775.3:n.1753-46_1753-35dup
ENST00000376592.6:c.1753-46_1753-35dup	ENSP00000365777.1:n.1753-46_1753-35dup
ENST00000423400.7:c.1873-46_1873-35dup	ENSP00000398908.3:n.1873-46_1873-35dup
ENST00000641407.1:c.1753-228_1753-217dup	ENSP00000493098.1:n.1753-228_1753-217dup
ENST00000641446.1:c.*212-46_*212-35dup	ENSP00000493262.1:n.*212-46_*212-35dup
ENST00000641747.1:c.*1265-46_*1265-35dup	ENSP00000493116.1:n.*1265-46_*1265-35dup
ENST00000641759.1:n.2122-46_2122-35dup
ENST00000641805.1:n.2270-228_2270-217dup
ENST00000641820.1:c.1018-46_1018-35dup	ENSP00000492937.1:n.1018-46_1018-35dup
ENST00000376583.7:c.1876-46_1876-35dup	ENSP00000365767.3:n.1876-46_1876-35dup
ENST00000376585.5:c.1876-46_1876-35dup	ENSP00000365770.1:n.1876-46_1876-35dup
ENST00000376590.7:c.1753-46_1753-35dup	ENSP00000365775.3:n.1753-46_1753-35dup
ENST00000376592.5:c.1753-46_1753-35dup	ENSP00000365777.1:n.1753-46_1753-35dup
NM_005957.4:c.1753-46_1753-35dup , LRG_726t1:c.1753-46_1753-35dup	NP_005948.3:n.1753-46_1753-35dup
XM_005263458.2:c.1876-46_1876-35dup	XP_005263515.1:n.1876-46_1876-35dup
XM_005263460.3:c.1753-46_1753-35dup	XP_005263517.1:n.1753-46_1753-35dup
XM_005263461.3:c.1753-46_1753-35dup	XP_005263518.1:n.1753-46_1753-35dup
XM_005263462.3:c.1753-46_1753-35dup	XP_005263519.1:n.1753-46_1753-35dup
XM_005263463.2:c.1507-46_1507-35dup	XP_005263520.1:n.1507-46_1507-35dup
XM_011541495.1:c.1873-46_1873-35dup	XP_011539797.1:n.1873-46_1873-35dup
XM_011541496.1:c.1876-228_1876-217dup	XP_011539798.1:n.1876-228_1876-217dup
NM_001330358.1:c.1876-46_1876-35dup	NP_001317287.1:n.1876-46_1876-35dup
XM_005263460.5:c.1753-46_1753-35dup	XP_005263517.1:n.1753-46_1753-35dup
XM_005263462.4:c.1753-46_1753-35dup	XP_005263519.1:n.1753-46_1753-35dup
XM_005263463.4:c.1507-46_1507-35dup	XP_005263520.1:n.1507-46_1507-35dup
XM_011541495.3:c.1873-46_1873-35dup	XP_011539797.1:n.1873-46_1873-35dup
XM_011541496.3:c.1876-228_1876-217dup	XP_011539798.1:n.1876-228_1876-217dup
XM_017001328.2:c.1876-196_1876-185dup	XP_016856817.1:n.1876-196_1876-185dup
XM_024447198.1:c.1507-46_1507-35dup	XP_024302966.1:n.1507-46_1507-35dup
XR_002956640.1:n.2854-228_2854-217dup
NM_005957.5:c.1753-46_1753-35dup MANE Select	NP_005948.3:n.1753-46_1753-35dup
NM_001330358.2:c.1876-46_1876-35dup	NP_001317287.1:n.1876-46_1876-35dup