Canonical Allele Identifier: CA595199

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 1561909
• ClinVar RCV Id: RCV002200463 ; RCV003923517
• dbSNP Id: rs751611452
• ExAC: 1:11850974 GCA / G
• gnomAD v2: 1-11850974-GCA-G
• gnomAD v3: 1-11790917-GCA-G
• gnomAD v4: 1-11790917-GCA-G
• MyVariant Identifiers: chr1:g.11850975_11850976del (hg19) ; chr1:g.11790918_11790919del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790923_11790924del , CM000663.2:g.11790923_11790924del	GRCh38
NC_000001.10:g.11850980_11850981del , CM000663.1:g.11850980_11850981del	GRCh37
NC_000001.9:g.11773567_11773568del	NCBI36
NG_013351.1:g.20185_20186del , LRG_726:g.20185_20186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1876-21_1876-20del	ENSP00000365770.1:n.1876-21_1876-20del
ENST00000376590.9:c.1753-21_1753-20del MANE Select	ENSP00000365775.3:n.1753-21_1753-20del
ENST00000376592.6:c.1753-21_1753-20del	ENSP00000365777.1:n.1753-21_1753-20del
ENST00000423400.7:c.1873-21_1873-20del	ENSP00000398908.3:n.1873-21_1873-20del
ENST00000641407.1:c.1753-203_1753-202del	ENSP00000493098.1:n.1753-203_1753-202del
ENST00000641446.1:c.*212-21_*212-20del	ENSP00000493262.1:n.*212-21_*212-20del
ENST00000641747.1:c.*1265-21_*1265-20del	ENSP00000493116.1:n.*1265-21_*1265-20del
ENST00000641759.1:n.2122-21_2122-20del
ENST00000641805.1:n.2270-203_2270-202del
ENST00000641820.1:c.1018-21_1018-20del	ENSP00000492937.1:n.1018-21_1018-20del
ENST00000376583.7:c.1876-21_1876-20del	ENSP00000365767.3:n.1876-21_1876-20del
ENST00000376585.5:c.1876-21_1876-20del	ENSP00000365770.1:n.1876-21_1876-20del
ENST00000376590.7:c.1753-21_1753-20del	ENSP00000365775.3:n.1753-21_1753-20del
ENST00000376592.5:c.1753-21_1753-20del	ENSP00000365777.1:n.1753-21_1753-20del
NM_005957.4:c.1753-21_1753-20del , LRG_726t1:c.1753-21_1753-20del	NP_005948.3:n.1753-21_1753-20del
XM_005263458.2:c.1876-21_1876-20del	XP_005263515.1:n.1876-21_1876-20del
XM_005263460.3:c.1753-21_1753-20del	XP_005263517.1:n.1753-21_1753-20del
XM_005263461.3:c.1753-21_1753-20del	XP_005263518.1:n.1753-21_1753-20del
XM_005263462.3:c.1753-21_1753-20del	XP_005263519.1:n.1753-21_1753-20del
XM_005263463.2:c.1507-21_1507-20del	XP_005263520.1:n.1507-21_1507-20del
XM_011541495.1:c.1873-21_1873-20del	XP_011539797.1:n.1873-21_1873-20del
XM_011541496.1:c.1876-203_1876-202del	XP_011539798.1:n.1876-203_1876-202del
NM_001330358.1:c.1876-21_1876-20del	NP_001317287.1:n.1876-21_1876-20del
XM_005263460.5:c.1753-21_1753-20del	XP_005263517.1:n.1753-21_1753-20del
XM_005263462.4:c.1753-21_1753-20del	XP_005263519.1:n.1753-21_1753-20del
XM_005263463.4:c.1507-21_1507-20del	XP_005263520.1:n.1507-21_1507-20del
XM_011541495.3:c.1873-21_1873-20del	XP_011539797.1:n.1873-21_1873-20del
XM_011541496.3:c.1876-203_1876-202del	XP_011539798.1:n.1876-203_1876-202del
XM_017001328.2:c.1876-171_1876-170del	XP_016856817.1:n.1876-171_1876-170del
XM_024447198.1:c.1507-21_1507-20del	XP_024302966.1:n.1507-21_1507-20del
XR_002956640.1:n.2854-203_2854-202del
NM_005957.5:c.1753-21_1753-20del MANE Select	NP_005948.3:n.1753-21_1753-20del
NM_001330358.2:c.1876-21_1876-20del	NP_001317287.1:n.1876-21_1876-20del