Canonical Allele Identifier: CA521455263

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2968100
• ClinVar RCV Id: RCV003821226
• dbSNP Id: rs1557757248
• gnomAD v2: 1-11850973-C-CGCACACACGCACACAT
• gnomAD v4: 1-11790916-C-CGCACACACGCACACAT
• MyVariant Identifiers: chr1:g.11850973_11850974insGCACACACGCACACAT (hg19) ; chr1:g.11790916_11790917insGCACACACGCACACAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790925_11790940dup , CM000663.2:g.11790925_11790940dup	GRCh38
NC_000001.10:g.11850982_11850997dup , CM000663.1:g.11850982_11850997dup	GRCh37
NC_000001.9:g.11773569_11773584dup	NCBI36
NG_013351.1:g.20172_20187dup , LRG_726:g.20172_20187dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1876-34_1876-19dup	ENSP00000365770.1:n.1876-34_1876-19dup
ENST00000376590.9:c.1753-34_1753-19dup MANE Select	ENSP00000365775.3:n.1753-34_1753-19dup
ENST00000376592.6:c.1753-34_1753-19dup	ENSP00000365777.1:n.1753-34_1753-19dup
ENST00000423400.7:c.1873-34_1873-19dup	ENSP00000398908.3:n.1873-34_1873-19dup
ENST00000641407.1:c.1753-216_1753-201dup	ENSP00000493098.1:n.1753-216_1753-201dup
ENST00000641446.1:c.*212-34_*212-19dup	ENSP00000493262.1:n.*212-34_*212-19dup
ENST00000641747.1:c.*1265-34_*1265-19dup	ENSP00000493116.1:n.*1265-34_*1265-19dup
ENST00000641759.1:n.2122-34_2122-19dup
ENST00000641805.1:n.2270-216_2270-201dup
ENST00000641820.1:c.1018-34_1018-19dup	ENSP00000492937.1:n.1018-34_1018-19dup
ENST00000376583.7:c.1876-34_1876-19dup	ENSP00000365767.3:n.1876-34_1876-19dup
ENST00000376585.5:c.1876-34_1876-19dup	ENSP00000365770.1:n.1876-34_1876-19dup
ENST00000376590.7:c.1753-34_1753-19dup	ENSP00000365775.3:n.1753-34_1753-19dup
ENST00000376592.5:c.1753-34_1753-19dup	ENSP00000365777.1:n.1753-34_1753-19dup
NM_005957.4:c.1753-34_1753-19dup , LRG_726t1:c.1753-34_1753-19dup	NP_005948.3:n.1753-34_1753-19dup
XM_005263458.2:c.1876-34_1876-19dup	XP_005263515.1:n.1876-34_1876-19dup
XM_005263460.3:c.1753-34_1753-19dup	XP_005263517.1:n.1753-34_1753-19dup
XM_005263461.3:c.1753-34_1753-19dup	XP_005263518.1:n.1753-34_1753-19dup
XM_005263462.3:c.1753-34_1753-19dup	XP_005263519.1:n.1753-34_1753-19dup
XM_005263463.2:c.1507-34_1507-19dup	XP_005263520.1:n.1507-34_1507-19dup
XM_011541495.1:c.1873-34_1873-19dup	XP_011539797.1:n.1873-34_1873-19dup
XM_011541496.1:c.1876-216_1876-201dup	XP_011539798.1:n.1876-216_1876-201dup
NM_001330358.1:c.1876-34_1876-19dup	NP_001317287.1:n.1876-34_1876-19dup
XM_005263460.5:c.1753-34_1753-19dup	XP_005263517.1:n.1753-34_1753-19dup
XM_005263462.4:c.1753-34_1753-19dup	XP_005263519.1:n.1753-34_1753-19dup
XM_005263463.4:c.1507-34_1507-19dup	XP_005263520.1:n.1507-34_1507-19dup
XM_011541495.3:c.1873-34_1873-19dup	XP_011539797.1:n.1873-34_1873-19dup
XM_011541496.3:c.1876-216_1876-201dup	XP_011539798.1:n.1876-216_1876-201dup
XM_017001328.2:c.1876-184_1876-169dup	XP_016856817.1:n.1876-184_1876-169dup
XM_024447198.1:c.1507-34_1507-19dup	XP_024302966.1:n.1507-34_1507-19dup
XR_002956640.1:n.2854-216_2854-201dup
NM_005957.5:c.1753-34_1753-19dup MANE Select	NP_005948.3:n.1753-34_1753-19dup
NM_001330358.2:c.1876-34_1876-19dup	NP_001317287.1:n.1876-34_1876-19dup