Canonical Allele Identifier: CA416119804

Gene: MTHFR

Linked Data

• dbSNP Id: rs1644092918
• gnomAD v3: 1-11791219-G-A
• gnomAD v4: 1-11791219-G-A
• MyVariant Identifiers: chr1:g.11851276G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791219G>A , CM000663.2:g.11791219G>A	GRCh38
NC_000001.10:g.11851276G>A , CM000663.1:g.11851276G>A	GRCh37
NC_000001.9:g.11773863G>A	NCBI36
NG_013351.1:g.19885C>T , LRG_726:g.19885C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1863C>T	ENSP00000365770.1:p.Phe621=
ENST00000376590.9:c.1740C>T MANE Select	ENSP00000365775.3:p.Phe580=
ENST00000376592.6:c.1740C>T	ENSP00000365777.1:p.Phe580=
ENST00000423400.7:c.1860C>T	ENSP00000398908.3:p.Phe620=
ENST00000641407.1:c.1740C>T	ENSP00000493098.1:p.Phe580=
ENST00000641446.1:c.*199C>T	ENSP00000493262.1:n.*199C>T
ENST00000641747.1:c.*1252C>T	ENSP00000493116.1:n.*1252C>T
ENST00000641759.1:n.2109C>T
ENST00000641805.1:n.2257C>T
ENST00000641820.1:c.1005C>T	ENSP00000492937.1:p.Phe335=
ENST00000376583.7:c.1863C>T	ENSP00000365767.3:p.Phe621=
ENST00000376585.5:c.1863C>T	ENSP00000365770.1:p.Phe621=
ENST00000376590.7:c.1740C>T	ENSP00000365775.3:p.Phe580=
ENST00000376592.5:c.1740C>T	ENSP00000365777.1:p.Phe580=
NM_005957.4:c.1740C>T , LRG_726t1:c.1740C>T	NP_005948.3:p.Phe580=
XM_005263458.2:c.1863C>T	XP_005263515.1:p.Phe621=
XM_005263460.3:c.1740C>T	XP_005263517.1:p.Phe580=
XM_005263461.3:c.1740C>T	XP_005263518.1:p.Phe580=
XM_005263462.3:c.1740C>T	XP_005263519.1:p.Phe580=
XM_005263463.2:c.1494C>T	XP_005263520.1:p.Phe498=
XM_011541495.1:c.1860C>T	XP_011539797.1:p.Phe620=
XM_011541496.1:c.1863C>T	XP_011539798.1:p.Phe621=
NM_001330358.1:c.1863C>T	NP_001317287.1:p.Phe621=
XM_005263460.5:c.1740C>T	XP_005263517.1:p.Phe580=
XM_005263462.4:c.1740C>T	XP_005263519.1:p.Phe580=
XM_005263463.4:c.1494C>T	XP_005263520.1:p.Phe498=
XM_011541495.3:c.1860C>T	XP_011539797.1:p.Phe620=
XM_011541496.3:c.1863C>T	XP_011539798.1:p.Phe621=
XM_017001328.2:c.1863C>T	XP_016856817.1:p.Phe621=
XM_024447198.1:c.1494C>T	XP_024302966.1:p.Phe498=
XR_002956640.1:n.2841C>T
NM_005957.5:c.1740C>T MANE Select	NP_005948.3:p.Phe580=
NM_001330358.2:c.1863C>T	NP_001317287.1:p.Phe621=