Canonical Allele Identifier: CA595739

Gene: MTHFR

Linked Data

• dbSNP Id: rs749729349
• ExAC: 1:11863053 G / A
• gnomAD v2: 1-11863053-G-A
• gnomAD v4: 1-11802996-G-A
• MyVariant Identifiers: chr1:g.11863053G>A (hg19) ; chr1:g.11802996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802996G>A , CM000663.2:g.11802996G>A	GRCh38
NC_000001.10:g.11863053G>A , CM000663.1:g.11863053G>A	GRCh37
NC_000001.9:g.11785640G>A	NCBI36
NG_008766.1:g.1847G>A
NG_013351.1:g.8108C>T , LRG_726:g.8108C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.121C>T	ENSP00000365669.3:p.Arg41Trp
ENST00000376585.6:c.244C>T	ENSP00000365770.1:p.Arg82Trp
ENST00000376590.9:c.121C>T MANE Select	ENSP00000365775.3:p.Arg41Trp
ENST00000376592.6:c.121C>T	ENSP00000365777.1:p.Arg41Trp
ENST00000423400.7:c.241C>T	ENSP00000398908.3:p.Arg81Trp
ENST00000431243.6:n.902C>T
ENST00000641407.1:c.121C>T	ENSP00000493098.1:p.Arg41Trp
ENST00000641437.1:n.253C>T
ENST00000641446.1:c.121C>T	ENSP00000493262.1:p.Arg41Trp
ENST00000641721.1:n.178C>T
ENST00000641747.1:c.121C>T	ENSP00000493116.1:p.Arg41Trp
ENST00000641759.1:n.256C>T
ENST00000641805.1:n.404C>T
ENST00000641909.1:n.531C>T
ENST00000642002.1:n.350C>T
ENST00000376583.7:c.244C>T	ENSP00000365767.3:p.Arg82Trp
ENST00000376585.5:c.244C>T	ENSP00000365770.1:p.Arg82Trp
ENST00000376590.7:c.121C>T	ENSP00000365775.3:p.Arg41Trp
ENST00000376592.5:c.121C>T	ENSP00000365777.1:p.Arg41Trp
ENST00000418034.1:c.121C>T	ENSP00000405082.1:p.Arg41Trp
NM_005957.4:c.121C>T , LRG_726t1:c.121C>T	NP_005948.3:p.Arg41Trp
XM_005263458.2:c.244C>T	XP_005263515.1:p.Arg82Trp
XM_005263460.3:c.121C>T	XP_005263517.1:p.Arg41Trp
XM_005263461.3:c.121C>T	XP_005263518.1:p.Arg41Trp
XM_005263462.3:c.121C>T	XP_005263519.1:p.Arg41Trp
XM_005263463.2:c.-143C>T	XP_005263520.1:n.-143C>T
XM_011541495.1:c.241C>T	XP_011539797.1:p.Arg81Trp
XM_011541496.1:c.244C>T	XP_011539798.1:p.Arg82Trp
NM_001330358.1:c.244C>T	NP_001317287.1:p.Arg82Trp
XM_005263460.5:c.121C>T	XP_005263517.1:p.Arg41Trp
XM_005263462.4:c.121C>T	XP_005263519.1:p.Arg41Trp
XM_005263463.4:c.-143C>T	XP_005263520.1:n.-143C>T
XM_011541495.3:c.241C>T	XP_011539797.1:p.Arg81Trp
XM_011541496.3:c.244C>T	XP_011539798.1:p.Arg82Trp
XM_017001328.2:c.244C>T	XP_016856817.1:p.Arg82Trp
XM_024447198.1:c.-143C>T	XP_024302966.1:n.-143C>T
XR_002956640.1:n.988C>T
NM_005957.5:c.121C>T MANE Select	NP_005948.3:p.Arg41Trp
NM_001330358.2:c.244C>T	NP_001317287.1:p.Arg82Trp