Canonical Allele Identifier: CA2643297479

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11803229-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11803234_11803235del , CM000663.2:g.11803234_11803235del	GRCh38
NC_000001.10:g.11863291_11863292del , CM000663.1:g.11863291_11863292del	GRCh37
NC_000001.9:g.11785878_11785879del	NCBI36
NG_008766.1:g.2085_2086del
NG_013351.1:g.7873_7874del , LRG_726:g.7873_7874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.-10-105_-10-104del	ENSP00000365669.3:n.-10-105_-10-104del
ENST00000376585.6:c.111-102_111-101del	ENSP00000365770.1:n.111-102_111-101del
ENST00000376590.9:c.-13-102_-13-101del MANE Select	ENSP00000365775.3:n.-13-102_-13-101del
ENST00000376592.6:c.-115_-114del	ENSP00000365777.1:n.-115_-114del
ENST00000423400.7:c.111-105_111-104del	ENSP00000398908.3:n.111-105_111-104del
ENST00000431243.6:n.769-102_769-101del
ENST00000641407.1:c.-115_-114del	ENSP00000493098.1:n.-115_-114del
ENST00000641437.1:n.120-102_120-101del
ENST00000641446.1:c.-13-102_-13-101del	ENSP00000493262.1:n.-13-102_-13-101del
ENST00000641721.1:n.45-102_45-101del
ENST00000641747.1:c.-13-102_-13-101del	ENSP00000493116.1:n.-13-102_-13-101del
ENST00000641759.1:n.123-102_123-101del
ENST00000641805.1:n.274-105_274-104del
ENST00000641909.1:n.296_297del
ENST00000642002.1:n.217-102_217-101del
ENST00000376486.2:c.-13-102_-13-101del	ENSP00000365669.2:n.-13-102_-13-101del
ENST00000376583.7:c.111-102_111-101del	ENSP00000365767.3:n.111-102_111-101del
ENST00000376585.5:c.111-102_111-101del	ENSP00000365770.1:n.111-102_111-101del
ENST00000376590.7:c.-13-102_-13-101del	ENSP00000365775.3:n.-13-102_-13-101del
ENST00000376592.5:c.-115_-114del	ENSP00000365777.1:n.-115_-114del
ENST00000413656.5:c.-13-102_-13-101del	ENSP00000408307.1:n.-13-102_-13-101del
ENST00000418034.1:c.-13-102_-13-101del	ENSP00000405082.1:n.-13-102_-13-101del
ENST00000423400.5:c.-46_-45del	ENSP00000398908.1:n.-46_-45del
ENST00000431243.5:c.-13-102_-13-101del	ENSP00000400460.1:n.-13-102_-13-101del
NM_005957.4:c.-13-102_-13-101del , LRG_726t1:c.-13-102_-13-101del	NP_005948.3:n.-13-102_-13-101del
XM_005263458.2:c.111-102_111-101del	XP_005263515.1:n.111-102_111-101del
XM_005263460.3:c.-13-102_-13-101del	XP_005263517.1:n.-13-102_-13-101del
XM_005263461.3:c.-10-105_-10-104del	XP_005263518.1:n.-10-105_-10-104del
XM_005263462.3:c.-10-105_-10-104del	XP_005263519.1:n.-10-105_-10-104del
XM_005263463.2:c.-276-102_-276-101del	XP_005263520.1:n.-276-102_-276-101del
XM_011541495.1:c.111-105_111-104del	XP_011539797.1:n.111-105_111-104del
XM_011541496.1:c.111-102_111-101del	XP_011539798.1:n.111-102_111-101del
NM_001330358.1:c.111-102_111-101del	NP_001317287.1:n.111-102_111-101del
XM_005263460.5:c.-13-102_-13-101del	XP_005263517.1:n.-13-102_-13-101del
XM_005263462.4:c.-10-105_-10-104del	XP_005263519.1:n.-10-105_-10-104del
XM_005263463.4:c.-276-102_-276-101del	XP_005263520.1:n.-276-102_-276-101del
XM_011541495.3:c.111-105_111-104del	XP_011539797.1:n.111-105_111-104del
XM_011541496.3:c.111-102_111-101del	XP_011539798.1:n.111-102_111-101del
XM_017001328.2:c.111-102_111-101del	XP_016856817.1:n.111-102_111-101del
XM_024447198.1:c.-276-102_-276-101del	XP_024302966.1:n.-276-102_-276-101del
XR_002956640.1:n.858-105_858-104del
NM_005957.5:c.-13-102_-13-101del MANE Select	NP_005948.3:n.-13-102_-13-101del
NM_001330358.2:c.111-102_111-101del	NP_001317287.1:n.111-102_111-101del