Canonical Allele Identifier: CA521455000

Gene: MTHFR

Linked Data

• dbSNP Id: rs1359516635
• gnomAD v2: 1-11854612-CAG-C
• gnomAD v4: 1-11794555-CAG-C
• MyVariant Identifiers: chr1:g.11854613_11854614del (hg19) ; chr1:g.11794556_11794557del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794558_11794559del , CM000663.2:g.11794558_11794559del	GRCh38
NC_000001.10:g.11854615_11854616del , CM000663.1:g.11854615_11854616del	GRCh37
NC_000001.9:g.11777202_11777203del	NCBI36
NG_013351.1:g.16547_16548del , LRG_726:g.16547_16548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1290-19_1290-18del	ENSP00000365770.1:n.1290-19_1290-18del
ENST00000376590.9:c.1167-19_1167-18del MANE Select	ENSP00000365775.3:n.1167-19_1167-18del
ENST00000376592.6:c.1167-19_1167-18del	ENSP00000365777.1:n.1167-19_1167-18del
ENST00000423400.7:c.1287-19_1287-18del	ENSP00000398908.3:n.1287-19_1287-18del
ENST00000641407.1:c.1167-19_1167-18del	ENSP00000493098.1:n.1167-19_1167-18del
ENST00000641446.1:c.1167-19_1167-18del	ENSP00000493262.1:n.1167-19_1167-18del
ENST00000641747.1:c.*679-19_*679-18del	ENSP00000493116.1:n.*679-19_*679-18del
ENST00000641759.1:n.1536-19_1536-18del
ENST00000641805.1:n.1684-19_1684-18del
ENST00000641820.1:c.432-19_432-18del	ENSP00000492937.1:n.432-19_432-18del
ENST00000376583.7:c.1290-19_1290-18del	ENSP00000365767.3:n.1290-19_1290-18del
ENST00000376585.5:c.1290-19_1290-18del	ENSP00000365770.1:n.1290-19_1290-18del
ENST00000376590.7:c.1167-19_1167-18del	ENSP00000365775.3:n.1167-19_1167-18del
ENST00000376592.5:c.1167-19_1167-18del	ENSP00000365777.1:n.1167-19_1167-18del
NM_005957.4:c.1167-19_1167-18del , LRG_726t1:c.1167-19_1167-18del	NP_005948.3:n.1167-19_1167-18del
XM_005263458.2:c.1290-19_1290-18del	XP_005263515.1:n.1290-19_1290-18del
XM_005263460.3:c.1167-19_1167-18del	XP_005263517.1:n.1167-19_1167-18del
XM_005263461.3:c.1167-19_1167-18del	XP_005263518.1:n.1167-19_1167-18del
XM_005263462.3:c.1167-19_1167-18del	XP_005263519.1:n.1167-19_1167-18del
XM_005263463.2:c.921-19_921-18del	XP_005263520.1:n.921-19_921-18del
XM_011541495.1:c.1287-19_1287-18del	XP_011539797.1:n.1287-19_1287-18del
XM_011541496.1:c.1290-19_1290-18del	XP_011539798.1:n.1290-19_1290-18del
NM_001330358.1:c.1290-19_1290-18del	NP_001317287.1:n.1290-19_1290-18del
XM_005263460.5:c.1167-19_1167-18del	XP_005263517.1:n.1167-19_1167-18del
XM_005263462.4:c.1167-19_1167-18del	XP_005263519.1:n.1167-19_1167-18del
XM_005263463.4:c.921-19_921-18del	XP_005263520.1:n.921-19_921-18del
XM_011541495.3:c.1287-19_1287-18del	XP_011539797.1:n.1287-19_1287-18del
XM_011541496.3:c.1290-19_1290-18del	XP_011539798.1:n.1290-19_1290-18del
XM_017001328.2:c.1290-19_1290-18del	XP_016856817.1:n.1290-19_1290-18del
XM_024447198.1:c.921-19_921-18del	XP_024302966.1:n.921-19_921-18del
XR_002956640.1:n.2268-19_2268-18del
NM_005957.5:c.1167-19_1167-18del MANE Select	NP_005948.3:n.1167-19_1167-18del
NM_001330358.2:c.1290-19_1290-18del	NP_001317287.1:n.1290-19_1290-18del