Canonical Allele Identifier: CA2643305724

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2996540
• ClinVar RCV Id: RCV003858675
• gnomAD v4: 1-11792263-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11792267del , CM000663.2:g.11792267del	GRCh38
NC_000001.10:g.11852324del , CM000663.1:g.11852324del	GRCh37
NC_000001.9:g.11774911del	NCBI36
NG_013351.1:g.18840del , LRG_726:g.18840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1755+14del	ENSP00000365770.1:n.1755+14del
ENST00000376590.9:c.1632+14del MANE Select	ENSP00000365775.3:n.1632+14del
ENST00000376592.6:c.1632+14del	ENSP00000365777.1:n.1632+14del
ENST00000423400.7:c.1752+14del	ENSP00000398908.3:n.1752+14del
ENST00000641407.1:c.1632+14del	ENSP00000493098.1:n.1632+14del
ENST00000641446.1:c.1632+14del	ENSP00000493262.1:n.1632+14del
ENST00000641747.1:c.*1144+14del	ENSP00000493116.1:n.*1144+14del
ENST00000641759.1:n.2001+14del
ENST00000641805.1:n.2149+14del
ENST00000641820.1:c.897+14del	ENSP00000492937.1:n.897+14del
ENST00000376583.7:c.1755+14del	ENSP00000365767.3:n.1755+14del
ENST00000376585.5:c.1755+14del	ENSP00000365770.1:n.1755+14del
ENST00000376590.7:c.1632+14del	ENSP00000365775.3:n.1632+14del
ENST00000376592.5:c.1632+14del	ENSP00000365777.1:n.1632+14del
NM_005957.4:c.1632+14del , LRG_726t1:c.1632+14del	NP_005948.3:n.1632+14del
XM_005263458.2:c.1755+14del	XP_005263515.1:n.1755+14del
XM_005263460.3:c.1632+14del	XP_005263517.1:n.1632+14del
XM_005263461.3:c.1632+14del	XP_005263518.1:n.1632+14del
XM_005263462.3:c.1632+14del	XP_005263519.1:n.1632+14del
XM_005263463.2:c.1386+14del	XP_005263520.1:n.1386+14del
XM_011541495.1:c.1752+14del	XP_011539797.1:n.1752+14del
XM_011541496.1:c.1755+14del	XP_011539798.1:n.1755+14del
NM_001330358.1:c.1755+14del	NP_001317287.1:n.1755+14del
XM_005263460.5:c.1632+14del	XP_005263517.1:n.1632+14del
XM_005263462.4:c.1632+14del	XP_005263519.1:n.1632+14del
XM_005263463.4:c.1386+14del	XP_005263520.1:n.1386+14del
XM_011541495.3:c.1752+14del	XP_011539797.1:n.1752+14del
XM_011541496.3:c.1755+14del	XP_011539798.1:n.1755+14del
XM_017001328.2:c.1755+14del	XP_016856817.1:n.1755+14del
XM_024447198.1:c.1386+14del	XP_024302966.1:n.1386+14del
XR_002956640.1:n.2733+14del
NM_005957.5:c.1632+14del MANE Select	NP_005948.3:n.1632+14del
NM_001330358.2:c.1755+14del	NP_001317287.1:n.1755+14del