Canonical Allele Identifier: CA338473460

Gene: MTHFR

Linked Data

• dbSNP Id: rs199707466
• gnomAD v2: 1-11850830-G-T
• gnomAD v4: 1-11790773-G-T
• MyVariant Identifiers: chr1:g.11850830G>T (hg19) ; chr1:g.11790773G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790773G>T , CM000663.2:g.11790773G>T	GRCh38
NC_000001.10:g.11850830G>T , CM000663.1:g.11850830G>T	GRCh37
NC_000001.9:g.11773417G>T	NCBI36
NG_013351.1:g.20331C>A , LRG_726:g.20331C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.2001C>A	ENSP00000365770.1:p.Phe667Leu
ENST00000376590.9:c.1878C>A MANE Select	ENSP00000365775.3:p.Phe626Leu
ENST00000376592.6:c.1878C>A	ENSP00000365777.1:p.Phe626Leu
ENST00000423400.7:c.1998C>A	ENSP00000398908.3:p.Phe666Leu
ENST00000641407.1:c.1753-57C>A	ENSP00000493098.1:n.1753-57C>A
ENST00000641446.1:c.*337C>A	ENSP00000493262.1:n.*337C>A
ENST00000641747.1:c.*1390C>A	ENSP00000493116.1:n.*1390C>A
ENST00000641759.1:n.2247C>A
ENST00000641805.1:n.2270-57C>A
ENST00000641820.1:c.1143C>A	ENSP00000492937.1:p.Phe381Leu
ENST00000376583.7:c.2001C>A	ENSP00000365767.3:p.Phe667Leu
ENST00000376585.5:c.2001C>A	ENSP00000365770.1:p.Phe667Leu
ENST00000376590.7:c.1878C>A	ENSP00000365775.3:p.Phe626Leu
ENST00000376592.5:c.1878C>A	ENSP00000365777.1:p.Phe626Leu
NM_005957.4:c.1878C>A , LRG_726t1:c.1878C>A	NP_005948.3:p.Phe626Leu
XM_005263458.2:c.2001C>A	XP_005263515.1:p.Phe667Leu
XM_005263460.3:c.1878C>A	XP_005263517.1:p.Phe626Leu
XM_005263461.3:c.1878C>A	XP_005263518.1:p.Phe626Leu
XM_005263462.3:c.1878C>A	XP_005263519.1:p.Phe626Leu
XM_005263463.2:c.1632C>A	XP_005263520.1:p.Phe544Leu
XM_011541495.1:c.1998C>A	XP_011539797.1:p.Phe666Leu
XM_011541496.1:c.1876-57C>A	XP_011539798.1:n.1876-57C>A
NM_001330358.1:c.2001C>A	NP_001317287.1:p.Phe667Leu
XM_005263460.5:c.1878C>A	XP_005263517.1:p.Phe626Leu
XM_005263462.4:c.1878C>A	XP_005263519.1:p.Phe626Leu
XM_005263463.4:c.1632C>A	XP_005263520.1:p.Phe544Leu
XM_011541495.3:c.1998C>A	XP_011539797.1:p.Phe666Leu
XM_011541496.3:c.1876-57C>A	XP_011539798.1:n.1876-57C>A
XM_017001328.2:c.1876-25C>A	XP_016856817.1:n.1876-25C>A
XM_024447198.1:c.1632C>A	XP_024302966.1:p.Phe544Leu
XR_002956640.1:n.2854-57C>A
NM_005957.5:c.1878C>A MANE Select	NP_005948.3:p.Phe626Leu
NM_001330358.2:c.2001C>A	NP_001317287.1:p.Phe667Leu