Canonical Allele Identifier: CA886038819

Gene: MTHFR

Linked Data

• dbSNP Id: rs1491504394
• MyVariant Identifiers: chr1:g.11850503_11850504insAAAG (hg19) ; chr1:g.11790446_11790447insAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790448_11790451dup , CM000663.2:g.11790448_11790451dup	GRCh38
NC_000001.10:g.11850505_11850508dup , CM000663.1:g.11850505_11850508dup	GRCh37
NC_000001.9:g.11773092_11773095dup	NCBI36
NG_013351.1:g.20654_20657dup , LRG_726:g.20654_20657dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*230_*233dup	ENSP00000365770.1:n.*230_*233dup
ENST00000376590.9:c.*230_*233dup MANE Select	ENSP00000365775.3:n.*230_*233dup
ENST00000376592.6:c.*230_*233dup	ENSP00000365777.1:n.*230_*233dup
ENST00000423400.7:c.*230_*233dup	ENSP00000398908.3:n.*230_*233dup
ENST00000641407.1:c.*90_*93dup	ENSP00000493098.1:n.*90_*93dup
ENST00000641446.1:c.*660_*663dup	ENSP00000493262.1:n.*660_*663dup
ENST00000641747.1:c.*1713_*1716dup	ENSP00000493116.1:n.*1713_*1716dup
ENST00000641805.1:n.2536_2539dup
ENST00000376583.7:c.2324_2327dup	ENSP00000365767.3:n.2324_2327dup
ENST00000376585.5:c.*230_*233dup	ENSP00000365770.1:n.*230_*233dup
ENST00000376590.7:c.*230_*233dup	ENSP00000365775.3:n.*230_*233dup
ENST00000376592.5:c.*230_*233dup	ENSP00000365777.1:n.*230_*233dup
NM_005957.4:c.*230_*233dup , LRG_726t1:c.*230_*233dup	NP_005948.3:n.*230_*233dup
XM_005263458.2:c.*230_*233dup	XP_005263515.1:n.*230_*233dup
XM_005263460.3:c.*230_*233dup	XP_005263517.1:n.*230_*233dup
XM_005263461.3:c.*230_*233dup	XP_005263518.1:n.*230_*233dup
XM_005263462.3:c.*230_*233dup	XP_005263519.1:n.*230_*233dup
XM_005263463.2:c.*230_*233dup	XP_005263520.1:n.*230_*233dup
XM_011541495.1:c.*230_*233dup	XP_011539797.1:n.*230_*233dup
XM_011541496.1:c.*90_*93dup	XP_011539798.1:n.*90_*93dup
NM_001330358.1:c.*230_*233dup	NP_001317287.1:n.*230_*233dup
XM_005263460.5:c.*230_*233dup	XP_005263517.1:n.*230_*233dup
XM_005263462.4:c.*230_*233dup	XP_005263519.1:n.*230_*233dup
XM_005263463.4:c.*230_*233dup	XP_005263520.1:n.*230_*233dup
XM_011541495.3:c.*230_*233dup	XP_011539797.1:n.*230_*233dup
XM_011541496.3:c.*90_*93dup	XP_011539798.1:n.*90_*93dup
XM_024447198.1:c.*230_*233dup	XP_024302966.1:n.*230_*233dup
NM_005957.5:c.*230_*233dup MANE Select	NP_005948.3:n.*230_*233dup
NM_001330358.2:c.*230_*233dup	NP_001317287.1:n.*230_*233dup