Canonical Allele Identifier: CA338480239

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11855273G>C (hg19) ; chr1:g.11795216G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795216G>C , CM000663.2:g.11795216G>C	GRCh38
NC_000001.10:g.11855273G>C , CM000663.1:g.11855273G>C	GRCh37
NC_000001.9:g.11777860G>C	NCBI36
NG_013351.1:g.15888C>G , LRG_726:g.15888C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1036C>G	ENSP00000365770.1:p.Leu346Val
ENST00000376590.9:c.913C>G MANE Select	ENSP00000365775.3:p.Leu305Val
ENST00000376592.6:c.913C>G	ENSP00000365777.1:p.Leu305Val
ENST00000423400.7:c.1033C>G	ENSP00000398908.3:p.Leu345Val
ENST00000641407.1:c.913C>G	ENSP00000493098.1:p.Leu305Val
ENST00000641446.1:c.913C>G	ENSP00000493262.1:p.Leu305Val
ENST00000641721.1:n.776C>G
ENST00000641747.1:c.*425C>G	ENSP00000493116.1:n.*425C>G
ENST00000641759.1:n.1048C>G
ENST00000641805.1:n.1196C>G
ENST00000641820.1:c.178C>G	ENSP00000492937.1:p.Leu60Val
ENST00000376583.7:c.1036C>G	ENSP00000365767.3:p.Leu346Val
ENST00000376585.5:c.1036C>G	ENSP00000365770.1:p.Leu346Val
ENST00000376590.7:c.913C>G	ENSP00000365775.3:p.Leu305Val
ENST00000376592.5:c.913C>G	ENSP00000365777.1:p.Leu305Val
NM_005957.4:c.913C>G , LRG_726t1:c.913C>G	NP_005948.3:p.Leu305Val
XM_005263458.2:c.1036C>G	XP_005263515.1:p.Leu346Val
XM_005263460.3:c.913C>G	XP_005263517.1:p.Leu305Val
XM_005263461.3:c.913C>G	XP_005263518.1:p.Leu305Val
XM_005263462.3:c.913C>G	XP_005263519.1:p.Leu305Val
XM_005263463.2:c.667C>G	XP_005263520.1:p.Leu223Val
XM_011541495.1:c.1033C>G	XP_011539797.1:p.Leu345Val
XM_011541496.1:c.1036C>G	XP_011539798.1:p.Leu346Val
NM_001330358.1:c.1036C>G	NP_001317287.1:p.Leu346Val
XM_005263460.5:c.913C>G	XP_005263517.1:p.Leu305Val
XM_005263462.4:c.913C>G	XP_005263519.1:p.Leu305Val
XM_005263463.4:c.667C>G	XP_005263520.1:p.Leu223Val
XM_011541495.3:c.1033C>G	XP_011539797.1:p.Leu345Val
XM_011541496.3:c.1036C>G	XP_011539798.1:p.Leu346Val
XM_017001328.2:c.1036C>G	XP_016856817.1:p.Leu346Val
XM_024447198.1:c.667C>G	XP_024302966.1:p.Leu223Val
XR_002956640.1:n.1780C>G
NM_005957.5:c.913C>G MANE Select	NP_005948.3:p.Leu305Val
NM_001330358.2:c.1036C>G	NP_001317287.1:p.Leu346Val