Canonical Allele Identifier: CA595212

Gene: MTHFR

Linked Data

• dbSNP Id: rs200608598
• ExAC: 1:11850990 GCA / G
• gnomAD v2: 1-11850990-GCA-G
• gnomAD v3: 1-11790933-GCA-G
• gnomAD v4: 1-11790933-GCA-G
• MyVariant Identifiers: chr1:g.11850993_11850994del (hg19) ; chr1:g.11850991_11850992del (hg19) ; chr1:g.11790936_11790937del (hg38) ; chr1:g.11790934_11790935del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790944_11790945del , CM000663.2:g.11790944_11790945del	GRCh38
NC_000001.10:g.11851001_11851002del , CM000663.1:g.11851001_11851002del	GRCh37
NC_000001.9:g.11773588_11773589del	NCBI36
NG_013351.1:g.20169_20170del , LRG_726:g.20169_20170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1876-37_1876-36del	ENSP00000365770.1:n.1876-37_1876-36del
ENST00000376590.9:c.1753-37_1753-36del MANE Select	ENSP00000365775.3:n.1753-37_1753-36del
ENST00000376592.6:c.1753-37_1753-36del	ENSP00000365777.1:n.1753-37_1753-36del
ENST00000423400.7:c.1873-37_1873-36del	ENSP00000398908.3:n.1873-37_1873-36del
ENST00000641407.1:c.1753-219_1753-218del	ENSP00000493098.1:n.1753-219_1753-218del
ENST00000641446.1:c.*212-37_*212-36del	ENSP00000493262.1:n.*212-37_*212-36del
ENST00000641747.1:c.*1265-37_*1265-36del	ENSP00000493116.1:n.*1265-37_*1265-36del
ENST00000641759.1:n.2122-37_2122-36del
ENST00000641805.1:n.2270-219_2270-218del
ENST00000641820.1:c.1018-37_1018-36del	ENSP00000492937.1:n.1018-37_1018-36del
ENST00000376583.7:c.1876-37_1876-36del	ENSP00000365767.3:n.1876-37_1876-36del
ENST00000376585.5:c.1876-37_1876-36del	ENSP00000365770.1:n.1876-37_1876-36del
ENST00000376590.7:c.1753-37_1753-36del	ENSP00000365775.3:n.1753-37_1753-36del
ENST00000376592.5:c.1753-37_1753-36del	ENSP00000365777.1:n.1753-37_1753-36del
NM_005957.4:c.1753-37_1753-36del , LRG_726t1:c.1753-37_1753-36del	NP_005948.3:n.1753-37_1753-36del
XM_005263458.2:c.1876-37_1876-36del	XP_005263515.1:n.1876-37_1876-36del
XM_005263460.3:c.1753-37_1753-36del	XP_005263517.1:n.1753-37_1753-36del
XM_005263461.3:c.1753-37_1753-36del	XP_005263518.1:n.1753-37_1753-36del
XM_005263462.3:c.1753-37_1753-36del	XP_005263519.1:n.1753-37_1753-36del
XM_005263463.2:c.1507-37_1507-36del	XP_005263520.1:n.1507-37_1507-36del
XM_011541495.1:c.1873-37_1873-36del	XP_011539797.1:n.1873-37_1873-36del
XM_011541496.1:c.1876-219_1876-218del	XP_011539798.1:n.1876-219_1876-218del
NM_001330358.1:c.1876-37_1876-36del	NP_001317287.1:n.1876-37_1876-36del
XM_005263460.5:c.1753-37_1753-36del	XP_005263517.1:n.1753-37_1753-36del
XM_005263462.4:c.1753-37_1753-36del	XP_005263519.1:n.1753-37_1753-36del
XM_005263463.4:c.1507-37_1507-36del	XP_005263520.1:n.1507-37_1507-36del
XM_011541495.3:c.1873-37_1873-36del	XP_011539797.1:n.1873-37_1873-36del
XM_011541496.3:c.1876-219_1876-218del	XP_011539798.1:n.1876-219_1876-218del
XM_017001328.2:c.1876-187_1876-186del	XP_016856817.1:n.1876-187_1876-186del
XM_024447198.1:c.1507-37_1507-36del	XP_024302966.1:n.1507-37_1507-36del
XR_002956640.1:n.2854-219_2854-218del
NM_005957.5:c.1753-37_1753-36del MANE Select	NP_005948.3:n.1753-37_1753-36del
NM_001330358.2:c.1876-37_1876-36del	NP_001317287.1:n.1876-37_1876-36del