Canonical Allele Identifier: CA595219

Gene: MTHFR

Linked Data

• dbSNP Id: rs1491370932
• ExAC: 1:11851001 CAG / C
• gnomAD v2: 1-11851001-CAG-C
• gnomAD v3: 1-11790944-CAG-C
• gnomAD v4: 1-11790944-CAG-C
• MyVariant Identifiers: chr1:g.11851002_11851003del (hg19) ; chr1:g.11790945_11790946del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790947_11790948del , CM000663.2:g.11790947_11790948del	GRCh38
NC_000001.10:g.11851004_11851005del , CM000663.1:g.11851004_11851005del	GRCh37
NC_000001.9:g.11773591_11773592del	NCBI36
NG_013351.1:g.20158_20159del , LRG_726:g.20158_20159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1876-48_1876-47del	ENSP00000365770.1:n.1876-48_1876-47del
ENST00000376590.9:c.1753-48_1753-47del MANE Select	ENSP00000365775.3:n.1753-48_1753-47del
ENST00000376592.6:c.1753-48_1753-47del	ENSP00000365777.1:n.1753-48_1753-47del
ENST00000423400.7:c.1873-48_1873-47del	ENSP00000398908.3:n.1873-48_1873-47del
ENST00000641407.1:c.1753-230_1753-229del	ENSP00000493098.1:n.1753-230_1753-229del
ENST00000641446.1:c.*212-48_*212-47del	ENSP00000493262.1:n.*212-48_*212-47del
ENST00000641747.1:c.*1265-48_*1265-47del	ENSP00000493116.1:n.*1265-48_*1265-47del
ENST00000641759.1:n.2122-48_2122-47del
ENST00000641805.1:n.2270-230_2270-229del
ENST00000641820.1:c.1018-48_1018-47del	ENSP00000492937.1:n.1018-48_1018-47del
ENST00000376583.7:c.1876-48_1876-47del	ENSP00000365767.3:n.1876-48_1876-47del
ENST00000376585.5:c.1876-48_1876-47del	ENSP00000365770.1:n.1876-48_1876-47del
ENST00000376590.7:c.1753-48_1753-47del	ENSP00000365775.3:n.1753-48_1753-47del
ENST00000376592.5:c.1753-48_1753-47del	ENSP00000365777.1:n.1753-48_1753-47del
NM_005957.4:c.1753-48_1753-47del , LRG_726t1:c.1753-48_1753-47del	NP_005948.3:n.1753-48_1753-47del
XM_005263458.2:c.1876-48_1876-47del	XP_005263515.1:n.1876-48_1876-47del
XM_005263460.3:c.1753-48_1753-47del	XP_005263517.1:n.1753-48_1753-47del
XM_005263461.3:c.1753-48_1753-47del	XP_005263518.1:n.1753-48_1753-47del
XM_005263462.3:c.1753-48_1753-47del	XP_005263519.1:n.1753-48_1753-47del
XM_005263463.2:c.1507-48_1507-47del	XP_005263520.1:n.1507-48_1507-47del
XM_011541495.1:c.1873-48_1873-47del	XP_011539797.1:n.1873-48_1873-47del
XM_011541496.1:c.1876-230_1876-229del	XP_011539798.1:n.1876-230_1876-229del
NM_001330358.1:c.1876-48_1876-47del	NP_001317287.1:n.1876-48_1876-47del
XM_005263460.5:c.1753-48_1753-47del	XP_005263517.1:n.1753-48_1753-47del
XM_005263462.4:c.1753-48_1753-47del	XP_005263519.1:n.1753-48_1753-47del
XM_005263463.4:c.1507-48_1507-47del	XP_005263520.1:n.1507-48_1507-47del
XM_011541495.3:c.1873-48_1873-47del	XP_011539797.1:n.1873-48_1873-47del
XM_011541496.3:c.1876-230_1876-229del	XP_011539798.1:n.1876-230_1876-229del
XM_017001328.2:c.1876-198_1876-197del	XP_016856817.1:n.1876-198_1876-197del
XM_024447198.1:c.1507-48_1507-47del	XP_024302966.1:n.1507-48_1507-47del
XR_002956640.1:n.2854-230_2854-229del
NM_005957.5:c.1753-48_1753-47del MANE Select	NP_005948.3:n.1753-48_1753-47del
NM_001330358.2:c.1876-48_1876-47del	NP_001317287.1:n.1876-48_1876-47del