Canonical Allele Identifier: CA338423404

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11863181T>A (hg19) ; chr1:g.11803124T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11803124T>A , CM000663.2:g.11803124T>A	GRCh38
NC_000001.10:g.11863181T>A , CM000663.1:g.11863181T>A	GRCh37
NC_000001.9:g.11785768T>A	NCBI36
NG_008766.1:g.1975T>A
NG_013351.1:g.7980A>T , LRG_726:g.7980A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.-8A>T	ENSP00000365669.3:n.-8A>T
ENST00000376585.6:c.116A>T	ENSP00000365770.1:p.Asn39Ile
ENST00000376590.9:c.-8A>T MANE Select	ENSP00000365775.3:n.-8A>T
ENST00000376592.6:c.-8A>T	ENSP00000365777.1:n.-8A>T
ENST00000423400.7:c.113A>T	ENSP00000398908.3:p.Asn38Ile
ENST00000431243.6:n.774A>T
ENST00000641407.1:c.-8A>T	ENSP00000493098.1:n.-8A>T
ENST00000641437.1:n.125A>T
ENST00000641446.1:c.-8A>T	ENSP00000493262.1:n.-8A>T
ENST00000641721.1:n.50A>T
ENST00000641747.1:c.-8A>T	ENSP00000493116.1:n.-8A>T
ENST00000641759.1:n.128A>T
ENST00000641805.1:n.276A>T
ENST00000641909.1:n.403A>T
ENST00000642002.1:n.222A>T
ENST00000376486.2:c.-8A>T	ENSP00000365669.2:n.-8A>T
ENST00000376583.7:c.116A>T	ENSP00000365767.3:p.Asn39Ile
ENST00000376585.5:c.116A>T	ENSP00000365770.1:p.Asn39Ile
ENST00000376590.7:c.-8A>T	ENSP00000365775.3:n.-8A>T
ENST00000376592.5:c.-8A>T	ENSP00000365777.1:n.-8A>T
ENST00000413656.5:c.-8A>T	ENSP00000408307.1:n.-8A>T
ENST00000418034.1:c.-8A>T	ENSP00000405082.1:n.-8A>T
ENST00000423400.5:c.62A>T	ENSP00000398908.1:p.Asn21Ile
ENST00000431243.5:c.-8A>T	ENSP00000400460.1:n.-8A>T
NM_005957.4:c.-8A>T , LRG_726t1:c.-8A>T	NP_005948.3:n.-8A>T
XM_005263458.2:c.116A>T	XP_005263515.1:p.Asn39Ile
XM_005263460.3:c.-8A>T	XP_005263517.1:n.-8A>T
XM_005263461.3:c.-8A>T	XP_005263518.1:n.-8A>T
XM_005263462.3:c.-8A>T	XP_005263519.1:n.-8A>T
XM_005263463.2:c.-271A>T	XP_005263520.1:n.-271A>T
XM_011541495.1:c.113A>T	XP_011539797.1:p.Asn38Ile
XM_011541496.1:c.116A>T	XP_011539798.1:p.Asn39Ile
NM_001330358.1:c.116A>T	NP_001317287.1:p.Asn39Ile
XM_005263460.5:c.-8A>T	XP_005263517.1:n.-8A>T
XM_005263462.4:c.-8A>T	XP_005263519.1:n.-8A>T
XM_005263463.4:c.-271A>T	XP_005263520.1:n.-271A>T
XM_011541495.3:c.113A>T	XP_011539797.1:p.Asn38Ile
XM_011541496.3:c.116A>T	XP_011539798.1:p.Asn39Ile
XM_017001328.2:c.116A>T	XP_016856817.1:p.Asn39Ile
XM_024447198.1:c.-271A>T	XP_024302966.1:n.-271A>T
XR_002956640.1:n.860A>T
NM_005957.5:c.-8A>T MANE Select	NP_005948.3:n.-8A>T
NM_001330358.2:c.116A>T	NP_001317287.1:p.Asn39Ile