Canonical Allele Identifier: CA338422924

Gene: MTHFR

Linked Data

• COSMIC: COSM146405 ; COSM4782308
• MyVariant Identifiers: chr1:g.11862954C>G (hg19) ; chr1:g.11802897C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802897C>G , CM000663.2:g.11802897C>G	GRCh38
NC_000001.10:g.11862954C>G , CM000663.1:g.11862954C>G	GRCh37
NC_000001.9:g.11785541C>G	NCBI36
NG_008766.1:g.1748C>G
NG_013351.1:g.8207G>C , LRG_726:g.8207G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.220G>C	ENSP00000365669.3:p.Val74Leu
ENST00000376585.6:c.343G>C	ENSP00000365770.1:p.Val115Leu
ENST00000376590.9:c.220G>C MANE Select	ENSP00000365775.3:p.Val74Leu
ENST00000376592.6:c.220G>C	ENSP00000365777.1:p.Val74Leu
ENST00000423400.7:c.340G>C	ENSP00000398908.3:p.Val114Leu
ENST00000431243.6:n.1001G>C
ENST00000641407.1:c.220G>C	ENSP00000493098.1:p.Val74Leu
ENST00000641437.1:n.352G>C
ENST00000641446.1:c.220G>C	ENSP00000493262.1:p.Val74Leu
ENST00000641721.1:n.277G>C
ENST00000641747.1:c.220G>C	ENSP00000493116.1:p.Val74Leu
ENST00000641759.1:n.355G>C
ENST00000641805.1:n.503G>C
ENST00000641909.1:n.630G>C
ENST00000642002.1:n.449G>C
ENST00000376583.7:c.343G>C	ENSP00000365767.3:p.Val115Leu
ENST00000376585.5:c.343G>C	ENSP00000365770.1:p.Val115Leu
ENST00000376590.7:c.220G>C	ENSP00000365775.3:p.Val74Leu
ENST00000376592.5:c.220G>C	ENSP00000365777.1:p.Val74Leu
ENST00000418034.1:c.220G>C	ENSP00000405082.1:p.Val74Leu
NM_005957.4:c.220G>C , LRG_726t1:c.220G>C	NP_005948.3:p.Val74Leu
XM_005263458.2:c.343G>C	XP_005263515.1:p.Val115Leu
XM_005263460.3:c.220G>C	XP_005263517.1:p.Val74Leu
XM_005263461.3:c.220G>C	XP_005263518.1:p.Val74Leu
XM_005263462.3:c.220G>C	XP_005263519.1:p.Val74Leu
XM_005263463.2:c.-44G>C	XP_005263520.1:n.-44G>C
XM_011541495.1:c.340G>C	XP_011539797.1:p.Val114Leu
XM_011541496.1:c.343G>C	XP_011539798.1:p.Val115Leu
NM_001330358.1:c.343G>C	NP_001317287.1:p.Val115Leu
XM_005263460.5:c.220G>C	XP_005263517.1:p.Val74Leu
XM_005263462.4:c.220G>C	XP_005263519.1:p.Val74Leu
XM_005263463.4:c.-44G>C	XP_005263520.1:n.-44G>C
XM_011541495.3:c.340G>C	XP_011539797.1:p.Val114Leu
XM_011541496.3:c.343G>C	XP_011539798.1:p.Val115Leu
XM_017001328.2:c.343G>C	XP_016856817.1:p.Val115Leu
XM_024447198.1:c.-44G>C	XP_024302966.1:n.-44G>C
XR_002956640.1:n.1087G>C
NM_005957.5:c.220G>C MANE Select	NP_005948.3:p.Val74Leu
NM_001330358.2:c.343G>C	NP_001317287.1:p.Val115Leu