Canonical Allele Identifier: CA338422923

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11862954C>A (hg19) ; chr1:g.11802897C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802897C>A , CM000663.2:g.11802897C>A	GRCh38
NC_000001.10:g.11862954C>A , CM000663.1:g.11862954C>A	GRCh37
NC_000001.9:g.11785541C>A	NCBI36
NG_008766.1:g.1748C>A
NG_013351.1:g.8207G>T , LRG_726:g.8207G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.220G>T	ENSP00000365669.3:p.Val74Phe
ENST00000376585.6:c.343G>T	ENSP00000365770.1:p.Val115Phe
ENST00000376590.9:c.220G>T MANE Select	ENSP00000365775.3:p.Val74Phe
ENST00000376592.6:c.220G>T	ENSP00000365777.1:p.Val74Phe
ENST00000423400.7:c.340G>T	ENSP00000398908.3:p.Val114Phe
ENST00000431243.6:n.1001G>T
ENST00000641407.1:c.220G>T	ENSP00000493098.1:p.Val74Phe
ENST00000641437.1:n.352G>T
ENST00000641446.1:c.220G>T	ENSP00000493262.1:p.Val74Phe
ENST00000641721.1:n.277G>T
ENST00000641747.1:c.220G>T	ENSP00000493116.1:p.Val74Phe
ENST00000641759.1:n.355G>T
ENST00000641805.1:n.503G>T
ENST00000641909.1:n.630G>T
ENST00000642002.1:n.449G>T
ENST00000376583.7:c.343G>T	ENSP00000365767.3:p.Val115Phe
ENST00000376585.5:c.343G>T	ENSP00000365770.1:p.Val115Phe
ENST00000376590.7:c.220G>T	ENSP00000365775.3:p.Val74Phe
ENST00000376592.5:c.220G>T	ENSP00000365777.1:p.Val74Phe
ENST00000418034.1:c.220G>T	ENSP00000405082.1:p.Val74Phe
NM_005957.4:c.220G>T , LRG_726t1:c.220G>T	NP_005948.3:p.Val74Phe
XM_005263458.2:c.343G>T	XP_005263515.1:p.Val115Phe
XM_005263460.3:c.220G>T	XP_005263517.1:p.Val74Phe
XM_005263461.3:c.220G>T	XP_005263518.1:p.Val74Phe
XM_005263462.3:c.220G>T	XP_005263519.1:p.Val74Phe
XM_005263463.2:c.-44G>T	XP_005263520.1:n.-44G>T
XM_011541495.1:c.340G>T	XP_011539797.1:p.Val114Phe
XM_011541496.1:c.343G>T	XP_011539798.1:p.Val115Phe
NM_001330358.1:c.343G>T	NP_001317287.1:p.Val115Phe
XM_005263460.5:c.220G>T	XP_005263517.1:p.Val74Phe
XM_005263462.4:c.220G>T	XP_005263519.1:p.Val74Phe
XM_005263463.4:c.-44G>T	XP_005263520.1:n.-44G>T
XM_011541495.3:c.340G>T	XP_011539797.1:p.Val114Phe
XM_011541496.3:c.343G>T	XP_011539798.1:p.Val115Phe
XM_017001328.2:c.343G>T	XP_016856817.1:p.Val115Phe
XM_024447198.1:c.-44G>T	XP_024302966.1:n.-44G>T
XR_002956640.1:n.1087G>T
NM_005957.5:c.220G>T MANE Select	NP_005948.3:p.Val74Phe
NM_001330358.2:c.343G>T	NP_001317287.1:p.Val115Phe