Canonical Allele Identifier: CA416120844

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11856407C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796350C>T , CM000663.2:g.11796350C>T	GRCh38
NC_000001.10:g.11856407C>T , CM000663.1:g.11856407C>T	GRCh37
NC_000001.9:g.11778994C>T	NCBI36
NG_013351.1:g.14754G>A , LRG_726:g.14754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.636G>A	ENSP00000365669.3:p.Lys212=
ENST00000376585.6:c.759G>A	ENSP00000365770.1:p.Lys253=
ENST00000376590.9:c.636G>A MANE Select	ENSP00000365775.3:p.Lys212=
ENST00000376592.6:c.636G>A	ENSP00000365777.1:p.Lys212=
ENST00000423400.7:c.756G>A	ENSP00000398908.3:p.Lys252=
ENST00000641407.1:c.636G>A	ENSP00000493098.1:p.Lys212=
ENST00000641446.1:c.636G>A	ENSP00000493262.1:p.Lys212=
ENST00000641721.1:n.644-1002G>A
ENST00000641747.1:c.*148G>A	ENSP00000493116.1:n.*148G>A
ENST00000641759.1:n.771G>A
ENST00000641805.1:n.919G>A
ENST00000641820.1:c.-100G>A	ENSP00000492937.1:n.-100G>A
ENST00000376583.7:c.759G>A	ENSP00000365767.3:p.Lys253=
ENST00000376585.5:c.759G>A	ENSP00000365770.1:p.Lys253=
ENST00000376590.7:c.636G>A	ENSP00000365775.3:p.Lys212=
ENST00000376592.5:c.636G>A	ENSP00000365777.1:p.Lys212=
NM_005957.4:c.636G>A , LRG_726t1:c.636G>A	NP_005948.3:p.Lys212=
XM_005263458.2:c.759G>A	XP_005263515.1:p.Lys253=
XM_005263460.3:c.636G>A	XP_005263517.1:p.Lys212=
XM_005263461.3:c.636G>A	XP_005263518.1:p.Lys212=
XM_005263462.3:c.636G>A	XP_005263519.1:p.Lys212=
XM_005263463.2:c.390G>A	XP_005263520.1:p.Lys130=
XM_011541495.1:c.756G>A	XP_011539797.1:p.Lys252=
XM_011541496.1:c.759G>A	XP_011539798.1:p.Lys253=
NM_001330358.1:c.759G>A	NP_001317287.1:p.Lys253=
XM_005263460.5:c.636G>A	XP_005263517.1:p.Lys212=
XM_005263462.4:c.636G>A	XP_005263519.1:p.Lys212=
XM_005263463.4:c.390G>A	XP_005263520.1:p.Lys130=
XM_011541495.3:c.756G>A	XP_011539797.1:p.Lys252=
XM_011541496.3:c.759G>A	XP_011539798.1:p.Lys253=
XM_017001328.2:c.759G>A	XP_016856817.1:p.Lys253=
XM_024447198.1:c.390G>A	XP_024302966.1:p.Lys130=
XR_002956640.1:n.1503G>A
NM_005957.5:c.636G>A MANE Select	NP_005948.3:p.Lys212=
NM_001330358.2:c.759G>A	NP_001317287.1:p.Lys253=