Canonical Allele Identifier: CA338422381

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11861300G>C (hg19) ; chr1:g.11801243G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801243G>C , CM000663.2:g.11801243G>C	GRCh38
NC_000001.10:g.11861300G>C , CM000663.1:g.11861300G>C	GRCh37
NC_000001.9:g.11783887G>C	NCBI36
NG_008766.1:g.94G>C
NG_013351.1:g.9861C>G , LRG_726:g.9861C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.393C>G	ENSP00000365669.3:p.Cys131Trp
ENST00000376585.6:c.516C>G	ENSP00000365770.1:p.Cys172Trp
ENST00000376590.9:c.393C>G MANE Select	ENSP00000365775.3:p.Cys131Trp
ENST00000376592.6:c.393C>G	ENSP00000365777.1:p.Cys131Trp
ENST00000423400.7:c.513C>G	ENSP00000398908.3:p.Cys171Trp
ENST00000641407.1:c.393C>G	ENSP00000493098.1:p.Cys131Trp
ENST00000641437.1:n.525C>G
ENST00000641446.1:c.393C>G	ENSP00000493262.1:p.Cys131Trp
ENST00000641721.1:n.450C>G
ENST00000641747.1:c.237-921C>G	ENSP00000493116.1:n.237-921C>G
ENST00000641759.1:n.528C>G
ENST00000641805.1:n.676C>G
ENST00000641909.1:n.803C>G
ENST00000376583.7:c.516C>G	ENSP00000365767.3:p.Cys172Trp
ENST00000376585.5:c.516C>G	ENSP00000365770.1:p.Cys172Trp
ENST00000376590.7:c.393C>G	ENSP00000365775.3:p.Cys131Trp
ENST00000376592.5:c.393C>G	ENSP00000365777.1:p.Cys131Trp
ENST00000418034.1:c.393C>G	ENSP00000405082.1:p.Cys131Trp
NM_005957.4:c.393C>G , LRG_726t1:c.393C>G	NP_005948.3:p.Cys131Trp
XM_005263458.2:c.516C>G	XP_005263515.1:p.Cys172Trp
XM_005263460.3:c.393C>G	XP_005263517.1:p.Cys131Trp
XM_005263461.3:c.393C>G	XP_005263518.1:p.Cys131Trp
XM_005263462.3:c.393C>G	XP_005263519.1:p.Cys131Trp
XM_005263463.2:c.147C>G	XP_005263520.1:p.Cys49Trp
XM_011541495.1:c.513C>G	XP_011539797.1:p.Cys171Trp
XM_011541496.1:c.516C>G	XP_011539798.1:p.Cys172Trp
NM_001330358.1:c.516C>G	NP_001317287.1:p.Cys172Trp
XM_005263460.5:c.393C>G	XP_005263517.1:p.Cys131Trp
XM_005263462.4:c.393C>G	XP_005263519.1:p.Cys131Trp
XM_005263463.4:c.147C>G	XP_005263520.1:p.Cys49Trp
XM_011541495.3:c.513C>G	XP_011539797.1:p.Cys171Trp
XM_011541496.3:c.516C>G	XP_011539798.1:p.Cys172Trp
XM_017001328.2:c.516C>G	XP_016856817.1:p.Cys172Trp
XM_024447198.1:c.147C>G	XP_024302966.1:p.Cys49Trp
XR_002956640.1:n.1260C>G
NM_005957.5:c.393C>G MANE Select	NP_005948.3:p.Cys131Trp
NM_001330358.2:c.516C>G	NP_001317287.1:p.Cys172Trp