Canonical Allele Identifier: CA2643297558

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11803270-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11803270C>A , CM000663.2:g.11803270C>A	GRCh38
NC_000001.10:g.11863327C>A , CM000663.1:g.11863327C>A	GRCh37
NC_000001.9:g.11785914C>A	NCBI36
NG_008766.1:g.2121C>A
NG_013351.1:g.7834G>T , LRG_726:g.7834G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.-10-144G>T	ENSP00000365669.3:n.-10-144G>T
ENST00000376585.6:c.110+135G>T	ENSP00000365770.1:n.110+135G>T
ENST00000376590.9:c.-13-141G>T MANE Select	ENSP00000365775.3:n.-13-141G>T
ENST00000376592.6:c.-154G>T	ENSP00000365777.1:n.-154G>T
ENST00000423400.7:c.110+135G>T	ENSP00000398908.3:n.110+135G>T
ENST00000431243.6:n.769-141G>T
ENST00000641407.1:c.-154G>T	ENSP00000493098.1:n.-154G>T
ENST00000641437.1:n.120-141G>T
ENST00000641446.1:c.-13-141G>T	ENSP00000493262.1:n.-13-141G>T
ENST00000641721.1:n.44+135G>T
ENST00000641747.1:c.-13-141G>T	ENSP00000493116.1:n.-13-141G>T
ENST00000641759.1:n.122+135G>T
ENST00000641805.1:n.273+135G>T
ENST00000641909.1:n.257G>T
ENST00000642002.1:n.217-141G>T
ENST00000376486.2:c.-13-141G>T	ENSP00000365669.2:n.-13-141G>T
ENST00000376583.7:c.110+135G>T	ENSP00000365767.3:n.110+135G>T
ENST00000376585.5:c.110+135G>T	ENSP00000365770.1:n.110+135G>T
ENST00000376590.7:c.-13-141G>T	ENSP00000365775.3:n.-13-141G>T
ENST00000413656.5:c.-13-141G>T	ENSP00000408307.1:n.-13-141G>T
ENST00000418034.1:c.-13-141G>T	ENSP00000405082.1:n.-13-141G>T
ENST00000423400.5:c.-85G>T	ENSP00000398908.1:n.-85G>T
ENST00000431243.5:c.-13-141G>T	ENSP00000400460.1:n.-13-141G>T
NM_005957.4:c.-13-141G>T , LRG_726t1:c.-13-141G>T	NP_005948.3:n.-13-141G>T
XM_005263458.2:c.110+135G>T	XP_005263515.1:n.110+135G>T
XM_005263460.3:c.-13-141G>T	XP_005263517.1:n.-13-141G>T
XM_005263461.3:c.-10-144G>T	XP_005263518.1:n.-10-144G>T
XM_005263462.3:c.-10-144G>T	XP_005263519.1:n.-10-144G>T
XM_005263463.2:c.-276-141G>T	XP_005263520.1:n.-276-141G>T
XM_011541495.1:c.110+135G>T	XP_011539797.1:n.110+135G>T
XM_011541496.1:c.110+135G>T	XP_011539798.1:n.110+135G>T
NM_001330358.1:c.110+135G>T	NP_001317287.1:n.110+135G>T
XM_005263460.5:c.-13-141G>T	XP_005263517.1:n.-13-141G>T
XM_005263462.4:c.-10-144G>T	XP_005263519.1:n.-10-144G>T
XM_005263463.4:c.-276-141G>T	XP_005263520.1:n.-276-141G>T
XM_011541495.3:c.110+135G>T	XP_011539797.1:n.110+135G>T
XM_011541496.3:c.110+135G>T	XP_011539798.1:n.110+135G>T
XM_017001328.2:c.110+135G>T	XP_016856817.1:n.110+135G>T
XM_024447198.1:c.-277+135G>T	XP_024302966.1:n.-277+135G>T
XR_002956640.1:n.857+135G>T
NM_005957.5:c.-13-141G>T MANE Select	NP_005948.3:n.-13-141G>T
NM_001330358.2:c.110+135G>T	NP_001317287.1:n.110+135G>T