Canonical Allele Identifier: CA998619505

Gene: MTHFR

Linked Data

• dbSNP Id: rs1644075416
• gnomAD v3: 1-11790903-ACACACATACCCCCGCACACACG-A
• gnomAD v4: 1-11790903-ACACACATACCCCCGCACACACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790911_11790932del , CM000663.2:g.11790911_11790932del	GRCh38
NC_000001.10:g.11850968_11850989del , CM000663.1:g.11850968_11850989del	GRCh37
NC_000001.9:g.11773555_11773576del	NCBI36
NG_013351.1:g.20179_20200del , LRG_726:g.20179_20200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1876-27_1876-6del	ENSP00000365770.1:n.1876-27_1876-6del
ENST00000376590.9:c.1753-27_1753-6del MANE Select	ENSP00000365775.3:n.1753-27_1753-6del
ENST00000376592.6:c.1753-27_1753-6del	ENSP00000365777.1:n.1753-27_1753-6del
ENST00000423400.7:c.1873-27_1873-6del	ENSP00000398908.3:n.1873-27_1873-6del
ENST00000641407.1:c.1753-209_1753-188del	ENSP00000493098.1:n.1753-209_1753-188del
ENST00000641446.1:c.*212-27_*212-6del	ENSP00000493262.1:n.*212-27_*212-6del
ENST00000641747.1:c.*1265-27_*1265-6del	ENSP00000493116.1:n.*1265-27_*1265-6del
ENST00000641759.1:n.2122-27_2122-6del
ENST00000641805.1:n.2270-209_2270-188del
ENST00000641820.1:c.1018-27_1018-6del	ENSP00000492937.1:n.1018-27_1018-6del
ENST00000376583.7:c.1876-27_1876-6del	ENSP00000365767.3:n.1876-27_1876-6del
ENST00000376585.5:c.1876-27_1876-6del	ENSP00000365770.1:n.1876-27_1876-6del
ENST00000376590.7:c.1753-27_1753-6del	ENSP00000365775.3:n.1753-27_1753-6del
ENST00000376592.5:c.1753-27_1753-6del	ENSP00000365777.1:n.1753-27_1753-6del
NM_005957.4:c.1753-27_1753-6del , LRG_726t1:c.1753-27_1753-6del	NP_005948.3:n.1753-27_1753-6del
XM_005263458.2:c.1876-27_1876-6del	XP_005263515.1:n.1876-27_1876-6del
XM_005263460.3:c.1753-27_1753-6del	XP_005263517.1:n.1753-27_1753-6del
XM_005263461.3:c.1753-27_1753-6del	XP_005263518.1:n.1753-27_1753-6del
XM_005263462.3:c.1753-27_1753-6del	XP_005263519.1:n.1753-27_1753-6del
XM_005263463.2:c.1507-27_1507-6del	XP_005263520.1:n.1507-27_1507-6del
XM_011541495.1:c.1873-27_1873-6del	XP_011539797.1:n.1873-27_1873-6del
XM_011541496.1:c.1876-209_1876-188del	XP_011539798.1:n.1876-209_1876-188del
NM_001330358.1:c.1876-27_1876-6del	NP_001317287.1:n.1876-27_1876-6del
XM_005263460.5:c.1753-27_1753-6del	XP_005263517.1:n.1753-27_1753-6del
XM_005263462.4:c.1753-27_1753-6del	XP_005263519.1:n.1753-27_1753-6del
XM_005263463.4:c.1507-27_1507-6del	XP_005263520.1:n.1507-27_1507-6del
XM_011541495.3:c.1873-27_1873-6del	XP_011539797.1:n.1873-27_1873-6del
XM_011541496.3:c.1876-209_1876-188del	XP_011539798.1:n.1876-209_1876-188del
XM_017001328.2:c.1876-177_1876-156del	XP_016856817.1:n.1876-177_1876-156del
XM_024447198.1:c.1507-27_1507-6del	XP_024302966.1:n.1507-27_1507-6del
XR_002956640.1:n.2854-209_2854-188del
NM_005957.5:c.1753-27_1753-6del MANE Select	NP_005948.3:n.1753-27_1753-6del
NM_001330358.2:c.1876-27_1876-6del	NP_001317287.1:n.1876-27_1876-6del