Canonical Allele Identifier: CA1153806142
Community Standard Title: NM_005957.5(MTHFR):c.244C= (p.Arg82=)
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11801392G= , CM000663.2:g.11801392G= GRCh38
NC_000001.10:g.11861449G= , CM000663.1:g.11861449G= GRCh37
NC_000001.9:g.11784036G= NCBI36
NG_008766.1:g.243G=
NG_013351.1:g.9712C= , LRG_726:g.9712C=

Transcript Alleles

HGVS Amino-acid Change
NM_005957.5:c.244C= MANE Select NP_005948.3:p.Arg82=
ENST00000376590.9:c.244C= MANE Select ENSP00000365775.3:p.Arg82=
NM_001330358.1:c.367C= NP_001317287.1:p.Arg123=
NM_001330358.2:c.367C= NP_001317287.1:p.Arg123=
NM_005957.4:c.244C= , LRG_726t1:c.244C= NP_005948.3:p.Arg82=
ENST00000376486.3:c.244C= ENSP00000365669.3:p.Arg82=
ENST00000376583.7:c.367C= ENSP00000365767.3:p.Arg123=
ENST00000376585.5:c.367C= ENSP00000365770.1:p.Arg123=
ENST00000376585.6:c.367C= ENSP00000365770.1:p.Arg123=
ENST00000376590.7:c.244C= ENSP00000365775.3:p.Arg82=
ENST00000376592.5:c.244C= ENSP00000365777.1:p.Arg82=
ENST00000376592.6:c.244C= ENSP00000365777.1:p.Arg82=
ENST00000418034.1:c.244C= ENSP00000405082.1:p.Arg82=
ENST00000423400.7:c.364C= ENSP00000398908.3:p.Arg122=
ENST00000431243.6:n.1042C=
ENST00000641407.1:c.244C= ENSP00000493098.1:p.Arg82=
ENST00000641437.1:n.376C=
ENST00000641446.1:c.244C= ENSP00000493262.1:p.Arg82=
ENST00000641721.1:n.301C=
ENST00000641747.1:c.237-1070C= ENSP00000493116.1:n.237-1070C=
ENST00000641759.1:n.379C=
ENST00000641805.1:n.527C=
ENST00000641909.1:n.654C=
ENST00000642002.1:n.490C=
XM_005263458.2:c.367C= XP_005263515.1:p.Arg123=
XM_005263460.3:c.244C= XP_005263517.1:p.Arg82=
XM_005263460.5:c.244C= XP_005263517.1:p.Arg82=
XM_005263461.3:c.244C= XP_005263518.1:p.Arg82=
XM_005263462.3:c.244C= XP_005263519.1:p.Arg82=
XM_005263462.4:c.244C= XP_005263519.1:p.Arg82=
XM_005263463.2:c.-3C= XP_005263520.1:n.-3C=
XM_005263463.4:c.-3C= XP_005263520.1:n.-3C=
XM_011541495.1:c.364C= XP_011539797.1:p.Arg122=
XM_011541495.3:c.364C= XP_011539797.1:p.Arg122=
XM_011541496.1:c.367C= XP_011539798.1:p.Arg123=
XM_011541496.3:c.367C= XP_011539798.1:p.Arg123=
XM_017001328.2:c.367C= XP_016856817.1:p.Arg123=
XM_024447198.1:c.-3C= XP_024302966.1:n.-3C=
XR_002956640.1:n.1111C=