Canonical Allele Identifier: CA595620

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2898587
• ClinVar RCV Id: RCV003636587
• dbSNP Id: rs769778830
• ExAC: 1:11860249 A / G
• gnomAD v2: 1-11860249-A-G
• gnomAD v4: 1-11800192-A-G
• MyVariant Identifiers: chr1:g.11860249A>G (hg19) ; chr1:g.11800192A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800192A>G , CM000663.2:g.11800192A>G	GRCh38
NC_000001.10:g.11860249A>G , CM000663.1:g.11860249A>G	GRCh37
NC_000001.9:g.11782836A>G	NCBI36
NG_013351.1:g.10912T>C , LRG_726:g.10912T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.586+20T>C	ENSP00000365669.3:n.586+20T>C
ENST00000376585.6:c.709+20T>C	ENSP00000365770.1:n.709+20T>C
ENST00000376590.9:c.586+20T>C MANE Select	ENSP00000365775.3:n.586+20T>C
ENST00000376592.6:c.586+20T>C	ENSP00000365777.1:n.586+20T>C
ENST00000423400.7:c.706+20T>C	ENSP00000398908.3:n.706+20T>C
ENST00000641407.1:c.586+20T>C	ENSP00000493098.1:n.586+20T>C
ENST00000641437.1:n.1576T>C
ENST00000641446.1:c.586+20T>C	ENSP00000493262.1:n.586+20T>C
ENST00000641721.1:n.643+20T>C
ENST00000641747.1:c.*98+20T>C	ENSP00000493116.1:n.*98+20T>C
ENST00000641759.1:n.721+20T>C
ENST00000641805.1:n.869+20T>C
ENST00000641909.1:n.1854T>C
ENST00000376583.7:c.709+20T>C	ENSP00000365767.3:n.709+20T>C
ENST00000376585.5:c.709+20T>C	ENSP00000365770.1:n.709+20T>C
ENST00000376590.7:c.586+20T>C	ENSP00000365775.3:n.586+20T>C
ENST00000376592.5:c.586+20T>C	ENSP00000365777.1:n.586+20T>C
NM_005957.4:c.586+20T>C , LRG_726t1:c.586+20T>C	NP_005948.3:n.586+20T>C
XM_005263458.2:c.709+20T>C	XP_005263515.1:n.709+20T>C
XM_005263460.3:c.586+20T>C	XP_005263517.1:n.586+20T>C
XM_005263461.3:c.586+20T>C	XP_005263518.1:n.586+20T>C
XM_005263462.3:c.586+20T>C	XP_005263519.1:n.586+20T>C
XM_005263463.2:c.340+20T>C	XP_005263520.1:n.340+20T>C
XM_011541495.1:c.706+20T>C	XP_011539797.1:n.706+20T>C
XM_011541496.1:c.709+20T>C	XP_011539798.1:n.709+20T>C
NM_001330358.1:c.709+20T>C	NP_001317287.1:n.709+20T>C
XM_005263460.5:c.586+20T>C	XP_005263517.1:n.586+20T>C
XM_005263462.4:c.586+20T>C	XP_005263519.1:n.586+20T>C
XM_005263463.4:c.340+20T>C	XP_005263520.1:n.340+20T>C
XM_011541495.3:c.706+20T>C	XP_011539797.1:n.706+20T>C
XM_011541496.3:c.709+20T>C	XP_011539798.1:n.709+20T>C
XM_017001328.2:c.709+20T>C	XP_016856817.1:n.709+20T>C
XM_024447198.1:c.340+20T>C	XP_024302966.1:n.340+20T>C
XR_002956640.1:n.1453+20T>C
NM_005957.5:c.586+20T>C MANE Select	NP_005948.3:n.586+20T>C
NM_001330358.2:c.709+20T>C	NP_001317287.1:n.709+20T>C