Canonical Allele Identifier: CA416360477

Gene: MTHFR

Linked Data

• dbSNP Id: rs1388783252
• gnomAD v3: 1-11802982-G-A
• gnomAD v4: 1-11802982-G-A
• MyVariant Identifiers: chr1:g.11863039G>A (hg19) ; chr1:g.11802982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802982G>A , CM000663.2:g.11802982G>A	GRCh38
NC_000001.10:g.11863039G>A , CM000663.1:g.11863039G>A	GRCh37
NC_000001.9:g.11785626G>A	NCBI36
NG_008766.1:g.1833G>A
NG_013351.1:g.8122C>T , LRG_726:g.8122C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.135C>T	ENSP00000365669.3:p.Leu45=
ENST00000376585.6:c.258C>T	ENSP00000365770.1:p.Leu86=
ENST00000376590.9:c.135C>T MANE Select	ENSP00000365775.3:p.Leu45=
ENST00000376592.6:c.135C>T	ENSP00000365777.1:p.Leu45=
ENST00000423400.7:c.255C>T	ENSP00000398908.3:p.Leu85=
ENST00000431243.6:n.916C>T
ENST00000641407.1:c.135C>T	ENSP00000493098.1:p.Leu45=
ENST00000641437.1:n.267C>T
ENST00000641446.1:c.135C>T	ENSP00000493262.1:p.Leu45=
ENST00000641721.1:n.192C>T
ENST00000641747.1:c.135C>T	ENSP00000493116.1:p.Leu45=
ENST00000641759.1:n.270C>T
ENST00000641805.1:n.418C>T
ENST00000641909.1:n.545C>T
ENST00000642002.1:n.364C>T
ENST00000376583.7:c.258C>T	ENSP00000365767.3:p.Leu86=
ENST00000376585.5:c.258C>T	ENSP00000365770.1:p.Leu86=
ENST00000376590.7:c.135C>T	ENSP00000365775.3:p.Leu45=
ENST00000376592.5:c.135C>T	ENSP00000365777.1:p.Leu45=
ENST00000418034.1:c.135C>T	ENSP00000405082.1:p.Leu45=
NM_005957.4:c.135C>T , LRG_726t1:c.135C>T	NP_005948.3:p.Leu45=
XM_005263458.2:c.258C>T	XP_005263515.1:p.Leu86=
XM_005263460.3:c.135C>T	XP_005263517.1:p.Leu45=
XM_005263461.3:c.135C>T	XP_005263518.1:p.Leu45=
XM_005263462.3:c.135C>T	XP_005263519.1:p.Leu45=
XM_005263463.2:c.-129C>T	XP_005263520.1:n.-129C>T
XM_011541495.1:c.255C>T	XP_011539797.1:p.Leu85=
XM_011541496.1:c.258C>T	XP_011539798.1:p.Leu86=
NM_001330358.1:c.258C>T	NP_001317287.1:p.Leu86=
XM_005263460.5:c.135C>T	XP_005263517.1:p.Leu45=
XM_005263462.4:c.135C>T	XP_005263519.1:p.Leu45=
XM_005263463.4:c.-129C>T	XP_005263520.1:n.-129C>T
XM_011541495.3:c.255C>T	XP_011539797.1:p.Leu85=
XM_011541496.3:c.258C>T	XP_011539798.1:p.Leu86=
XM_017001328.2:c.258C>T	XP_016856817.1:p.Leu86=
XM_024447198.1:c.-129C>T	XP_024302966.1:n.-129C>T
XR_002956640.1:n.1002C>T
NM_005957.5:c.135C>T MANE Select	NP_005948.3:p.Leu45=
NM_001330358.2:c.258C>T	NP_001317287.1:p.Leu86=