Canonical Allele Identifier: CA595429

Gene: MTHFR

Linked Data

• dbSNP Id: rs778569672
• ExAC: 1:11854748 CAAAG / C
• gnomAD v2: 1-11854748-CAAAG-C
• gnomAD v3: 1-11794691-CAAAG-C
• gnomAD v4: 1-11794691-CAAAG-C
• MyVariant Identifiers: chr1:g.11854749_11854752del (hg19) ; chr1:g.11794692_11794695del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794693_11794696del , CM000663.2:g.11794693_11794696del	GRCh38
NC_000001.10:g.11854750_11854753del , CM000663.1:g.11854750_11854753del	GRCh37
NC_000001.9:g.11777337_11777340del	NCBI36
NG_013351.1:g.16409_16412del , LRG_726:g.16409_16412del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1289+34_1289+37del	ENSP00000365770.1:n.1289+34_1289+37del
ENST00000376590.9:c.1166+34_1166+37del MANE Select	ENSP00000365775.3:n.1166+34_1166+37del
ENST00000376592.6:c.1166+34_1166+37del	ENSP00000365777.1:n.1166+34_1166+37del
ENST00000423400.7:c.1286+34_1286+37del	ENSP00000398908.3:n.1286+34_1286+37del
ENST00000641407.1:c.1166+34_1166+37del	ENSP00000493098.1:n.1166+34_1166+37del
ENST00000641446.1:c.1166+34_1166+37del	ENSP00000493262.1:n.1166+34_1166+37del
ENST00000641747.1:c.*678+34_*678+37del	ENSP00000493116.1:n.*678+34_*678+37del
ENST00000641759.1:n.1535+34_1535+37del
ENST00000641805.1:n.1683+34_1683+37del
ENST00000641820.1:c.431+34_431+37del	ENSP00000492937.1:n.431+34_431+37del
ENST00000376583.7:c.1289+34_1289+37del	ENSP00000365767.3:n.1289+34_1289+37del
ENST00000376585.5:c.1289+34_1289+37del	ENSP00000365770.1:n.1289+34_1289+37del
ENST00000376590.7:c.1166+34_1166+37del	ENSP00000365775.3:n.1166+34_1166+37del
ENST00000376592.5:c.1166+34_1166+37del	ENSP00000365777.1:n.1166+34_1166+37del
NM_005957.4:c.1166+34_1166+37del , LRG_726t1:c.1166+34_1166+37del	NP_005948.3:n.1166+34_1166+37del
XM_005263458.2:c.1289+34_1289+37del	XP_005263515.1:n.1289+34_1289+37del
XM_005263460.3:c.1166+34_1166+37del	XP_005263517.1:n.1166+34_1166+37del
XM_005263461.3:c.1166+34_1166+37del	XP_005263518.1:n.1166+34_1166+37del
XM_005263462.3:c.1166+34_1166+37del	XP_005263519.1:n.1166+34_1166+37del
XM_005263463.2:c.920+34_920+37del	XP_005263520.1:n.920+34_920+37del
XM_011541495.1:c.1286+34_1286+37del	XP_011539797.1:n.1286+34_1286+37del
XM_011541496.1:c.1289+34_1289+37del	XP_011539798.1:n.1289+34_1289+37del
NM_001330358.1:c.1289+34_1289+37del	NP_001317287.1:n.1289+34_1289+37del
XM_005263460.5:c.1166+34_1166+37del	XP_005263517.1:n.1166+34_1166+37del
XM_005263462.4:c.1166+34_1166+37del	XP_005263519.1:n.1166+34_1166+37del
XM_005263463.4:c.920+34_920+37del	XP_005263520.1:n.920+34_920+37del
XM_011541495.3:c.1286+34_1286+37del	XP_011539797.1:n.1286+34_1286+37del
XM_011541496.3:c.1289+34_1289+37del	XP_011539798.1:n.1289+34_1289+37del
XM_017001328.2:c.1289+34_1289+37del	XP_016856817.1:n.1289+34_1289+37del
XM_024447198.1:c.920+34_920+37del	XP_024302966.1:n.920+34_920+37del
XR_002956640.1:n.2267+34_2267+37del
NM_005957.5:c.1166+34_1166+37del MANE Select	NP_005948.3:n.1166+34_1166+37del
NM_001330358.2:c.1289+34_1289+37del	NP_001317287.1:n.1289+34_1289+37del