Canonical Allele Identifier: CA2592813162

Gene: MTHFR

Linked Data

• dbSNP Id: rs2100505052
• gnomAD v3: 1-11792080-CT-C
• gnomAD v4: 1-11792080-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11792082del , CM000663.2:g.11792082del	GRCh38
NC_000001.10:g.11852139del , CM000663.1:g.11852139del	GRCh37
NC_000001.9:g.11774726del	NCBI36
NG_013351.1:g.19023del , LRG_726:g.19023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1755+197del	ENSP00000365770.1:n.1755+197del
ENST00000376590.9:c.1632+197del MANE Select	ENSP00000365775.3:n.1632+197del
ENST00000376592.6:c.1632+197del	ENSP00000365777.1:n.1632+197del
ENST00000423400.7:c.1752+197del	ENSP00000398908.3:n.1752+197del
ENST00000641407.1:c.1632+197del	ENSP00000493098.1:n.1632+197del
ENST00000641446.1:c.1632+197del	ENSP00000493262.1:n.1632+197del
ENST00000641747.1:c.*1144+197del	ENSP00000493116.1:n.*1144+197del
ENST00000641759.1:n.2001+197del
ENST00000641805.1:n.2149+197del
ENST00000641820.1:c.897+197del	ENSP00000492937.1:n.897+197del
ENST00000376583.7:c.1755+197del	ENSP00000365767.3:n.1755+197del
ENST00000376585.5:c.1755+197del	ENSP00000365770.1:n.1755+197del
ENST00000376590.7:c.1632+197del	ENSP00000365775.3:n.1632+197del
ENST00000376592.5:c.1632+197del	ENSP00000365777.1:n.1632+197del
NM_005957.4:c.1632+197del , LRG_726t1:c.1632+197del	NP_005948.3:n.1632+197del
XM_005263458.2:c.1755+197del	XP_005263515.1:n.1755+197del
XM_005263460.3:c.1632+197del	XP_005263517.1:n.1632+197del
XM_005263461.3:c.1632+197del	XP_005263518.1:n.1632+197del
XM_005263462.3:c.1632+197del	XP_005263519.1:n.1632+197del
XM_005263463.2:c.1386+197del	XP_005263520.1:n.1386+197del
XM_011541495.1:c.1752+197del	XP_011539797.1:n.1752+197del
XM_011541496.1:c.1755+197del	XP_011539798.1:n.1755+197del
NM_001330358.1:c.1755+197del	NP_001317287.1:n.1755+197del
XM_005263460.5:c.1632+197del	XP_005263517.1:n.1632+197del
XM_005263462.4:c.1632+197del	XP_005263519.1:n.1632+197del
XM_005263463.4:c.1386+197del	XP_005263520.1:n.1386+197del
XM_011541495.3:c.1752+197del	XP_011539797.1:n.1752+197del
XM_011541496.3:c.1755+197del	XP_011539798.1:n.1755+197del
XM_017001328.2:c.1755+197del	XP_016856817.1:n.1755+197del
XM_024447198.1:c.1386+197del	XP_024302966.1:n.1386+197del
XR_002956640.1:n.2733+197del
NM_005957.5:c.1632+197del MANE Select	NP_005948.3:n.1632+197del
NM_001330358.2:c.1755+197del	NP_001317287.1:n.1755+197del