Canonical Allele Identifier: CA595197

Gene: MTHFR

Linked Data

• dbSNP Id: rs758514539
• ExAC: 1:11850968 ACC / A
• gnomAD v2: 1-11850968-ACC-A
• gnomAD v4: 1-11790911-ACC-A
• MyVariant Identifiers: chr1:g.11850969_11850970del (hg19) ; chr1:g.11790912_11790913del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790915_11790916del , CM000663.2:g.11790915_11790916del	GRCh38
NC_000001.10:g.11850972_11850973del , CM000663.1:g.11850972_11850973del	GRCh37
NC_000001.9:g.11773559_11773560del	NCBI36
NG_013351.1:g.20191_20192del , LRG_726:g.20191_20192del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1876-15_1876-14del	ENSP00000365770.1:n.1876-15_1876-14del
ENST00000376590.9:c.1753-15_1753-14del MANE Select	ENSP00000365775.3:n.1753-15_1753-14del
ENST00000376592.6:c.1753-15_1753-14del	ENSP00000365777.1:n.1753-15_1753-14del
ENST00000423400.7:c.1873-15_1873-14del	ENSP00000398908.3:n.1873-15_1873-14del
ENST00000641407.1:c.1753-197_1753-196del	ENSP00000493098.1:n.1753-197_1753-196del
ENST00000641446.1:c.*212-15_*212-14del	ENSP00000493262.1:n.*212-15_*212-14del
ENST00000641747.1:c.*1265-15_*1265-14del	ENSP00000493116.1:n.*1265-15_*1265-14del
ENST00000641759.1:n.2122-15_2122-14del
ENST00000641805.1:n.2270-197_2270-196del
ENST00000641820.1:c.1018-15_1018-14del	ENSP00000492937.1:n.1018-15_1018-14del
ENST00000376583.7:c.1876-15_1876-14del	ENSP00000365767.3:n.1876-15_1876-14del
ENST00000376585.5:c.1876-15_1876-14del	ENSP00000365770.1:n.1876-15_1876-14del
ENST00000376590.7:c.1753-15_1753-14del	ENSP00000365775.3:n.1753-15_1753-14del
ENST00000376592.5:c.1753-15_1753-14del	ENSP00000365777.1:n.1753-15_1753-14del
NM_005957.4:c.1753-15_1753-14del , LRG_726t1:c.1753-15_1753-14del	NP_005948.3:n.1753-15_1753-14del
XM_005263458.2:c.1876-15_1876-14del	XP_005263515.1:n.1876-15_1876-14del
XM_005263460.3:c.1753-15_1753-14del	XP_005263517.1:n.1753-15_1753-14del
XM_005263461.3:c.1753-15_1753-14del	XP_005263518.1:n.1753-15_1753-14del
XM_005263462.3:c.1753-15_1753-14del	XP_005263519.1:n.1753-15_1753-14del
XM_005263463.2:c.1507-15_1507-14del	XP_005263520.1:n.1507-15_1507-14del
XM_011541495.1:c.1873-15_1873-14del	XP_011539797.1:n.1873-15_1873-14del
XM_011541496.1:c.1876-197_1876-196del	XP_011539798.1:n.1876-197_1876-196del
NM_001330358.1:c.1876-15_1876-14del	NP_001317287.1:n.1876-15_1876-14del
XM_005263460.5:c.1753-15_1753-14del	XP_005263517.1:n.1753-15_1753-14del
XM_005263462.4:c.1753-15_1753-14del	XP_005263519.1:n.1753-15_1753-14del
XM_005263463.4:c.1507-15_1507-14del	XP_005263520.1:n.1507-15_1507-14del
XM_011541495.3:c.1873-15_1873-14del	XP_011539797.1:n.1873-15_1873-14del
XM_011541496.3:c.1876-197_1876-196del	XP_011539798.1:n.1876-197_1876-196del
XM_017001328.2:c.1876-165_1876-164del	XP_016856817.1:n.1876-165_1876-164del
XM_024447198.1:c.1507-15_1507-14del	XP_024302966.1:n.1507-15_1507-14del
XR_002956640.1:n.2854-197_2854-196del
NM_005957.5:c.1753-15_1753-14del MANE Select	NP_005948.3:n.1753-15_1753-14del
NM_001330358.2:c.1876-15_1876-14del	NP_001317287.1:n.1876-15_1876-14del