Canonical Allele Identifier: CA595767

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 3045632
• ClinVar RCV Id: RCV003951363
• dbSNP Id: rs34889587
• ExAC: 1:11863195 G / A
• gnomAD v2: 1-11863195-G-A
• gnomAD v3: 1-11803138-G-A
• gnomAD v4: 1-11803138-G-A
• MyVariant Identifiers: chr1:g.11863195G>A (hg19) ; chr1:g.11803138G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11803138G>A , CM000663.2:g.11803138G>A	GRCh38
NC_000001.10:g.11863195G>A , CM000663.1:g.11863195G>A	GRCh37
NC_000001.9:g.11785782G>A	NCBI36
NG_008766.1:g.1989G>A
NG_013351.1:g.7966C>T , LRG_726:g.7966C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.-10-12C>T	ENSP00000365669.3:n.-10-12C>T
ENST00000376585.6:c.111-9C>T	ENSP00000365770.1:n.111-9C>T
ENST00000376590.9:c.-13-9C>T MANE Select	ENSP00000365775.3:n.-13-9C>T
ENST00000376592.6:c.-22C>T	ENSP00000365777.1:n.-22C>T
ENST00000423400.7:c.111-12C>T	ENSP00000398908.3:n.111-12C>T
ENST00000431243.6:n.769-9C>T
ENST00000641407.1:c.-22C>T	ENSP00000493098.1:n.-22C>T
ENST00000641437.1:n.120-9C>T
ENST00000641446.1:c.-13-9C>T	ENSP00000493262.1:n.-13-9C>T
ENST00000641721.1:n.45-9C>T
ENST00000641747.1:c.-13-9C>T	ENSP00000493116.1:n.-13-9C>T
ENST00000641759.1:n.123-9C>T
ENST00000641805.1:n.274-12C>T
ENST00000641909.1:n.389C>T
ENST00000642002.1:n.217-9C>T
ENST00000376486.2:c.-13-9C>T	ENSP00000365669.2:n.-13-9C>T
ENST00000376583.7:c.111-9C>T	ENSP00000365767.3:n.111-9C>T
ENST00000376585.5:c.111-9C>T	ENSP00000365770.1:n.111-9C>T
ENST00000376590.7:c.-13-9C>T	ENSP00000365775.3:n.-13-9C>T
ENST00000376592.5:c.-22C>T	ENSP00000365777.1:n.-22C>T
ENST00000413656.5:c.-13-9C>T	ENSP00000408307.1:n.-13-9C>T
ENST00000418034.1:c.-13-9C>T	ENSP00000405082.1:n.-13-9C>T
ENST00000423400.5:c.48C>T	ENSP00000398908.1:p.Thr16=
ENST00000431243.5:c.-13-9C>T	ENSP00000400460.1:n.-13-9C>T
NM_005957.4:c.-13-9C>T , LRG_726t1:c.-13-9C>T	NP_005948.3:n.-13-9C>T
XM_005263458.2:c.111-9C>T	XP_005263515.1:n.111-9C>T
XM_005263460.3:c.-13-9C>T	XP_005263517.1:n.-13-9C>T
XM_005263461.3:c.-10-12C>T	XP_005263518.1:n.-10-12C>T
XM_005263462.3:c.-10-12C>T	XP_005263519.1:n.-10-12C>T
XM_005263463.2:c.-276-9C>T	XP_005263520.1:n.-276-9C>T
XM_011541495.1:c.111-12C>T	XP_011539797.1:n.111-12C>T
XM_011541496.1:c.111-9C>T	XP_011539798.1:n.111-9C>T
NM_001330358.1:c.111-9C>T	NP_001317287.1:n.111-9C>T
XM_005263460.5:c.-13-9C>T	XP_005263517.1:n.-13-9C>T
XM_005263462.4:c.-10-12C>T	XP_005263519.1:n.-10-12C>T
XM_005263463.4:c.-276-9C>T	XP_005263520.1:n.-276-9C>T
XM_011541495.3:c.111-12C>T	XP_011539797.1:n.111-12C>T
XM_011541496.3:c.111-9C>T	XP_011539798.1:n.111-9C>T
XM_017001328.2:c.111-9C>T	XP_016856817.1:n.111-9C>T
XM_024447198.1:c.-276-9C>T	XP_024302966.1:n.-276-9C>T
XR_002956640.1:n.858-12C>T
NM_005957.5:c.-13-9C>T MANE Select	NP_005948.3:n.-13-9C>T
NM_001330358.2:c.111-9C>T	NP_001317287.1:n.111-9C>T