Canonical Allele Identifier: CA521455339

Gene: MTHFR

Linked Data

• dbSNP Id: rs1171437574
• gnomAD v2: 1-11856472-ACAGT-A
• gnomAD v3: 1-11796415-ACAGT-A
• gnomAD v4: 1-11796415-ACAGT-A
• MyVariant Identifiers: chr1:g.11856473_11856476del (hg19) ; chr1:g.11796416_11796419del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796419_11796422del , CM000663.2:g.11796419_11796422del	GRCh38
NC_000001.10:g.11856476_11856479del , CM000663.1:g.11856476_11856479del	GRCh37
NC_000001.9:g.11779063_11779066del	NCBI36
NG_013351.1:g.14685_14688del , LRG_726:g.14685_14688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.587-20_587-17del	ENSP00000365669.3:n.587-20_587-17del
ENST00000376585.6:c.710-20_710-17del	ENSP00000365770.1:n.710-20_710-17del
ENST00000376590.9:c.587-20_587-17del MANE Select	ENSP00000365775.3:n.587-20_587-17del
ENST00000376592.6:c.587-20_587-17del	ENSP00000365777.1:n.587-20_587-17del
ENST00000423400.7:c.707-20_707-17del	ENSP00000398908.3:n.707-20_707-17del
ENST00000641407.1:c.587-20_587-17del	ENSP00000493098.1:n.587-20_587-17del
ENST00000641446.1:c.587-20_587-17del	ENSP00000493262.1:n.587-20_587-17del
ENST00000641721.1:n.644-1071_644-1068del
ENST00000641747.1:c.*99-20_*99-17del	ENSP00000493116.1:n.*99-20_*99-17del
ENST00000641759.1:n.722-20_722-17del
ENST00000641805.1:n.870-20_870-17del
ENST00000641820.1:c.-169_-166del	ENSP00000492937.1:n.-169_-166del
ENST00000376583.7:c.710-20_710-17del	ENSP00000365767.3:n.710-20_710-17del
ENST00000376585.5:c.710-20_710-17del	ENSP00000365770.1:n.710-20_710-17del
ENST00000376590.7:c.587-20_587-17del	ENSP00000365775.3:n.587-20_587-17del
ENST00000376592.5:c.587-20_587-17del	ENSP00000365777.1:n.587-20_587-17del
NM_005957.4:c.587-20_587-17del , LRG_726t1:c.587-20_587-17del	NP_005948.3:n.587-20_587-17del
XM_005263458.2:c.710-20_710-17del	XP_005263515.1:n.710-20_710-17del
XM_005263460.3:c.587-20_587-17del	XP_005263517.1:n.587-20_587-17del
XM_005263461.3:c.587-20_587-17del	XP_005263518.1:n.587-20_587-17del
XM_005263462.3:c.587-20_587-17del	XP_005263519.1:n.587-20_587-17del
XM_005263463.2:c.341-20_341-17del	XP_005263520.1:n.341-20_341-17del
XM_011541495.1:c.707-20_707-17del	XP_011539797.1:n.707-20_707-17del
XM_011541496.1:c.710-20_710-17del	XP_011539798.1:n.710-20_710-17del
NM_001330358.1:c.710-20_710-17del	NP_001317287.1:n.710-20_710-17del
XM_005263460.5:c.587-20_587-17del	XP_005263517.1:n.587-20_587-17del
XM_005263462.4:c.587-20_587-17del	XP_005263519.1:n.587-20_587-17del
XM_005263463.4:c.341-20_341-17del	XP_005263520.1:n.341-20_341-17del
XM_011541495.3:c.707-20_707-17del	XP_011539797.1:n.707-20_707-17del
XM_011541496.3:c.710-20_710-17del	XP_011539798.1:n.710-20_710-17del
XM_017001328.2:c.710-20_710-17del	XP_016856817.1:n.710-20_710-17del
XM_024447198.1:c.341-20_341-17del	XP_024302966.1:n.341-20_341-17del
XR_002956640.1:n.1454-20_1454-17del
NM_005957.5:c.587-20_587-17del MANE Select	NP_005948.3:n.587-20_587-17del
NM_001330358.2:c.710-20_710-17del	NP_001317287.1:n.710-20_710-17del