Canonical Allele Identifier: CA18002291

Gene: MTHFR

Linked Data

• dbSNP Id: rs200771471
• gnomAD v3: 1-11796353-C-T
• gnomAD v4: 1-11796353-C-T
• MyVariant Identifiers: chr1:g.11856410C>T (hg19) ; chr1:g.11796353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796353C>T , CM000663.2:g.11796353C>T	GRCh38
NC_000001.10:g.11856410C>T , CM000663.1:g.11856410C>T	GRCh37
NC_000001.9:g.11778997C>T	NCBI36
NG_013351.1:g.14751G>A , LRG_726:g.14751G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.633G>A	ENSP00000365669.3:p.Leu211=
ENST00000376585.6:c.756G>A	ENSP00000365770.1:p.Leu252=
ENST00000376590.9:c.633G>A MANE Select	ENSP00000365775.3:p.Leu211=
ENST00000376592.6:c.633G>A	ENSP00000365777.1:p.Leu211=
ENST00000423400.7:c.753G>A	ENSP00000398908.3:p.Leu251=
ENST00000641407.1:c.633G>A	ENSP00000493098.1:p.Leu211=
ENST00000641446.1:c.633G>A	ENSP00000493262.1:p.Leu211=
ENST00000641721.1:n.644-1005G>A
ENST00000641747.1:c.*145G>A	ENSP00000493116.1:n.*145G>A
ENST00000641759.1:n.768G>A
ENST00000641805.1:n.916G>A
ENST00000641820.1:c.-103G>A	ENSP00000492937.1:n.-103G>A
ENST00000376583.7:c.756G>A	ENSP00000365767.3:p.Leu252=
ENST00000376585.5:c.756G>A	ENSP00000365770.1:p.Leu252=
ENST00000376590.7:c.633G>A	ENSP00000365775.3:p.Leu211=
ENST00000376592.5:c.633G>A	ENSP00000365777.1:p.Leu211=
NM_005957.4:c.633G>A , LRG_726t1:c.633G>A	NP_005948.3:p.Leu211=
XM_005263458.2:c.756G>A	XP_005263515.1:p.Leu252=
XM_005263460.3:c.633G>A	XP_005263517.1:p.Leu211=
XM_005263461.3:c.633G>A	XP_005263518.1:p.Leu211=
XM_005263462.3:c.633G>A	XP_005263519.1:p.Leu211=
XM_005263463.2:c.387G>A	XP_005263520.1:p.Leu129=
XM_011541495.1:c.753G>A	XP_011539797.1:p.Leu251=
XM_011541496.1:c.756G>A	XP_011539798.1:p.Leu252=
NM_001330358.1:c.756G>A	NP_001317287.1:p.Leu252=
XM_005263460.5:c.633G>A	XP_005263517.1:p.Leu211=
XM_005263462.4:c.633G>A	XP_005263519.1:p.Leu211=
XM_005263463.4:c.387G>A	XP_005263520.1:p.Leu129=
XM_011541495.3:c.753G>A	XP_011539797.1:p.Leu251=
XM_011541496.3:c.756G>A	XP_011539798.1:p.Leu252=
XM_017001328.2:c.756G>A	XP_016856817.1:p.Leu252=
XM_024447198.1:c.387G>A	XP_024302966.1:p.Leu129=
XR_002956640.1:n.1500G>A
NM_005957.5:c.633G>A MANE Select	NP_005948.3:p.Leu211=
NM_001330358.2:c.756G>A	NP_001317287.1:p.Leu252=