Canonical Allele Identifier: CA18001429

Gene: MTHFR

Linked Data

• dbSNP Id: rs776769341
• gnomAD v4: 1-11795003-CACAG-C
• MyVariant Identifiers: chr1:g.11855061_11855064del (hg19) ; chr1:g.11795004_11795007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795007_11795010del , CM000663.2:g.11795007_11795010del	GRCh38
NC_000001.10:g.11855064_11855067del , CM000663.1:g.11855064_11855067del	GRCh37
NC_000001.9:g.11777651_11777654del	NCBI36
NG_013351.1:g.16097_16100del , LRG_726:g.16097_16100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1154+91_1154+94del	ENSP00000365770.1:n.1154+91_1154+94del
ENST00000376590.9:c.1031+91_1031+94del MANE Select	ENSP00000365775.3:n.1031+91_1031+94del
ENST00000376592.6:c.1031+91_1031+94del	ENSP00000365777.1:n.1031+91_1031+94del
ENST00000423400.7:c.1151+91_1151+94del	ENSP00000398908.3:n.1151+91_1151+94del
ENST00000641407.1:c.1031+91_1031+94del	ENSP00000493098.1:n.1031+91_1031+94del
ENST00000641446.1:c.1031+91_1031+94del	ENSP00000493262.1:n.1031+91_1031+94del
ENST00000641747.1:c.*543+91_*543+94del	ENSP00000493116.1:n.*543+91_*543+94del
ENST00000641759.1:n.1257_1260del
ENST00000641805.1:n.1405_1408del
ENST00000641820.1:c.296+91_296+94del	ENSP00000492937.1:n.296+91_296+94del
ENST00000376583.7:c.1154+91_1154+94del	ENSP00000365767.3:n.1154+91_1154+94del
ENST00000376585.5:c.1154+91_1154+94del	ENSP00000365770.1:n.1154+91_1154+94del
ENST00000376590.7:c.1031+91_1031+94del	ENSP00000365775.3:n.1031+91_1031+94del
ENST00000376592.5:c.1031+91_1031+94del	ENSP00000365777.1:n.1031+91_1031+94del
NM_005957.4:c.1031+91_1031+94del , LRG_726t1:c.1031+91_1031+94del	NP_005948.3:n.1031+91_1031+94del
XM_005263458.2:c.1154+91_1154+94del	XP_005263515.1:n.1154+91_1154+94del
XM_005263460.3:c.1031+91_1031+94del	XP_005263517.1:n.1031+91_1031+94del
XM_005263461.3:c.1031+91_1031+94del	XP_005263518.1:n.1031+91_1031+94del
XM_005263462.3:c.1031+91_1031+94del	XP_005263519.1:n.1031+91_1031+94del
XM_005263463.2:c.785+91_785+94del	XP_005263520.1:n.785+91_785+94del
XM_011541495.1:c.1151+91_1151+94del	XP_011539797.1:n.1151+91_1151+94del
XM_011541496.1:c.1154+91_1154+94del	XP_011539798.1:n.1154+91_1154+94del
NM_001330358.1:c.1154+91_1154+94del	NP_001317287.1:n.1154+91_1154+94del
XM_005263460.5:c.1031+91_1031+94del	XP_005263517.1:n.1031+91_1031+94del
XM_005263462.4:c.1031+91_1031+94del	XP_005263519.1:n.1031+91_1031+94del
XM_005263463.4:c.785+91_785+94del	XP_005263520.1:n.785+91_785+94del
XM_011541495.3:c.1151+91_1151+94del	XP_011539797.1:n.1151+91_1151+94del
XM_011541496.3:c.1154+91_1154+94del	XP_011539798.1:n.1154+91_1154+94del
XM_017001328.2:c.1154+91_1154+94del	XP_016856817.1:n.1154+91_1154+94del
XM_024447198.1:c.785+91_785+94del	XP_024302966.1:n.785+91_785+94del
XR_002956640.1:n.1989_1992del
NM_005957.5:c.1031+91_1031+94del MANE Select	NP_005948.3:n.1031+91_1031+94del
NM_001330358.2:c.1154+91_1154+94del	NP_001317287.1:n.1154+91_1154+94del