Canonical Allele Identifier: CA521455342

Gene: MTHFR

Linked Data

• dbSNP Id: rs1356700024
• gnomAD v2: 1-11861281-TCTC-T
• gnomAD v4: 1-11801224-TCTC-T
• MyVariant Identifiers: chr1:g.11861282_11861284del (hg19) ; chr1:g.11801225_11801227del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801229_11801231del , CM000663.2:g.11801229_11801231del	GRCh38
NC_000001.10:g.11861286_11861288del , CM000663.1:g.11861286_11861288del	GRCh37
NC_000001.9:g.11783873_11783875del	NCBI36
NG_008766.1:g.80_82del
NG_013351.1:g.9877_9879del , LRG_726:g.9877_9879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.409_411del	ENSP00000365669.3:p.Glu137del
ENST00000376585.6:c.532_534del	ENSP00000365770.1:p.Glu178del
ENST00000376590.9:c.409_411del MANE Select	ENSP00000365775.3:p.Glu137del
ENST00000376592.6:c.409_411del	ENSP00000365777.1:p.Glu137del
ENST00000423400.7:c.529_531del	ENSP00000398908.3:p.Glu177del
ENST00000641407.1:c.409_411del	ENSP00000493098.1:p.Glu137del
ENST00000641437.1:n.541_543del
ENST00000641446.1:c.409_411del	ENSP00000493262.1:p.Glu137del
ENST00000641721.1:n.466_468del
ENST00000641747.1:c.237-905_237-903del	ENSP00000493116.1:n.237-905_237-903del
ENST00000641759.1:n.544_546del
ENST00000641805.1:n.692_694del
ENST00000641909.1:n.819_821del
ENST00000376583.7:c.532_534del	ENSP00000365767.3:p.Glu178del
ENST00000376585.5:c.532_534del	ENSP00000365770.1:p.Glu178del
ENST00000376590.7:c.409_411del	ENSP00000365775.3:p.Glu137del
ENST00000376592.5:c.409_411del	ENSP00000365777.1:p.Glu137del
ENST00000418034.1:c.409_411del	ENSP00000405082.1:p.Glu137del
NM_005957.4:c.409_411del , LRG_726t1:c.409_411del	NP_005948.3:p.Glu137del
XM_005263458.2:c.532_534del	XP_005263515.1:p.Glu178del
XM_005263460.3:c.409_411del	XP_005263517.1:p.Glu137del
XM_005263461.3:c.409_411del	XP_005263518.1:p.Glu137del
XM_005263462.3:c.409_411del	XP_005263519.1:p.Glu137del
XM_005263463.2:c.163_165del	XP_005263520.1:p.Glu55del
XM_011541495.1:c.529_531del	XP_011539797.1:p.Glu177del
XM_011541496.1:c.532_534del	XP_011539798.1:p.Glu178del
NM_001330358.1:c.532_534del	NP_001317287.1:p.Glu178del
XM_005263460.5:c.409_411del	XP_005263517.1:p.Glu137del
XM_005263462.4:c.409_411del	XP_005263519.1:p.Glu137del
XM_005263463.4:c.163_165del	XP_005263520.1:p.Glu55del
XM_011541495.3:c.529_531del	XP_011539797.1:p.Glu177del
XM_011541496.3:c.532_534del	XP_011539798.1:p.Glu178del
XM_017001328.2:c.532_534del	XP_016856817.1:p.Glu178del
XM_024447198.1:c.163_165del	XP_024302966.1:p.Glu55del
XR_002956640.1:n.1276_1278del
NM_005957.5:c.409_411del MANE Select	NP_005948.3:p.Glu137del
NM_001330358.2:c.532_534del	NP_001317287.1:p.Glu178del