Canonical Allele Identifier: CA18001556

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2785084
• ClinVar RCV Id: RCV003636170
• dbSNP Id: rs6664734
• gnomAD v2: 1-11855241-C-T
• gnomAD v3: 1-11795184-C-T
• gnomAD v4: 1-11795184-C-T
• MyVariant Identifiers: chr1:g.11855241C>T (hg19) ; chr1:g.11795184C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795184C>T , CM000663.2:g.11795184C>T	GRCh38
NC_000001.10:g.11855241C>T , CM000663.1:g.11855241C>T	GRCh37
NC_000001.9:g.11777828C>T	NCBI36
NG_013351.1:g.15920G>A , LRG_726:g.15920G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1068G>A	ENSP00000365770.1:p.Val356=
ENST00000376590.9:c.945G>A MANE Select	ENSP00000365775.3:p.Val315=
ENST00000376592.6:c.945G>A	ENSP00000365777.1:p.Val315=
ENST00000423400.7:c.1065G>A	ENSP00000398908.3:p.Val355=
ENST00000641407.1:c.945G>A	ENSP00000493098.1:p.Val315=
ENST00000641446.1:c.945G>A	ENSP00000493262.1:p.Val315=
ENST00000641721.1:n.808G>A
ENST00000641747.1:c.*457G>A	ENSP00000493116.1:n.*457G>A
ENST00000641759.1:n.1080G>A
ENST00000641805.1:n.1228G>A
ENST00000641820.1:c.210G>A	ENSP00000492937.1:p.Val70=
ENST00000376583.7:c.1068G>A	ENSP00000365767.3:p.Val356=
ENST00000376585.5:c.1068G>A	ENSP00000365770.1:p.Val356=
ENST00000376590.7:c.945G>A	ENSP00000365775.3:p.Val315=
ENST00000376592.5:c.945G>A	ENSP00000365777.1:p.Val315=
NM_005957.4:c.945G>A , LRG_726t1:c.945G>A	NP_005948.3:p.Val315=
XM_005263458.2:c.1068G>A	XP_005263515.1:p.Val356=
XM_005263460.3:c.945G>A	XP_005263517.1:p.Val315=
XM_005263461.3:c.945G>A	XP_005263518.1:p.Val315=
XM_005263462.3:c.945G>A	XP_005263519.1:p.Val315=
XM_005263463.2:c.699G>A	XP_005263520.1:p.Val233=
XM_011541495.1:c.1065G>A	XP_011539797.1:p.Val355=
XM_011541496.1:c.1068G>A	XP_011539798.1:p.Val356=
NM_001330358.1:c.1068G>A	NP_001317287.1:p.Val356=
XM_005263460.5:c.945G>A	XP_005263517.1:p.Val315=
XM_005263462.4:c.945G>A	XP_005263519.1:p.Val315=
XM_005263463.4:c.699G>A	XP_005263520.1:p.Val233=
XM_011541495.3:c.1065G>A	XP_011539797.1:p.Val355=
XM_011541496.3:c.1068G>A	XP_011539798.1:p.Val356=
XM_017001328.2:c.1068G>A	XP_016856817.1:p.Val356=
XM_024447198.1:c.699G>A	XP_024302966.1:p.Val233=
XR_002956640.1:n.1812G>A
NM_005957.5:c.945G>A MANE Select	NP_005948.3:p.Val315=
NM_001330358.2:c.1068G>A	NP_001317287.1:p.Val356=