Canonical Allele Identifier: CA595537

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 1620065
• ClinVar RCV Id: RCV002089244
• dbSNP Id: rs376833963
• ExAC: 1:11855417 A / G
• gnomAD v2: 1-11855417-A-G
• gnomAD v3: 1-11795360-A-G
• gnomAD v4: 1-11795360-A-G
• MyVariant Identifiers: chr1:g.11855417A>G (hg19) ; chr1:g.11795360A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795360A>G , CM000663.2:g.11795360A>G	GRCh38
NC_000001.10:g.11855417A>G , CM000663.1:g.11855417A>G	GRCh37
NC_000001.9:g.11778004A>G	NCBI36
NG_013351.1:g.15744T>C , LRG_726:g.15744T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.904-12T>C	ENSP00000365770.1:n.904-12T>C
ENST00000376590.9:c.781-12T>C MANE Select	ENSP00000365775.3:n.781-12T>C
ENST00000376592.6:c.781-12T>C	ENSP00000365777.1:n.781-12T>C
ENST00000423400.7:c.901-12T>C	ENSP00000398908.3:n.901-12T>C
ENST00000641407.1:c.781-12T>C	ENSP00000493098.1:n.781-12T>C
ENST00000641446.1:c.781-12T>C	ENSP00000493262.1:n.781-12T>C
ENST00000641721.1:n.644-12T>C
ENST00000641747.1:c.*293-12T>C	ENSP00000493116.1:n.*293-12T>C
ENST00000641759.1:n.916-12T>C
ENST00000641805.1:n.1064-12T>C
ENST00000641820.1:c.46-12T>C	ENSP00000492937.1:n.46-12T>C
ENST00000376583.7:c.904-12T>C	ENSP00000365767.3:n.904-12T>C
ENST00000376585.5:c.904-12T>C	ENSP00000365770.1:n.904-12T>C
ENST00000376590.7:c.781-12T>C	ENSP00000365775.3:n.781-12T>C
ENST00000376592.5:c.781-12T>C	ENSP00000365777.1:n.781-12T>C
NM_005957.4:c.781-12T>C , LRG_726t1:c.781-12T>C	NP_005948.3:n.781-12T>C
XM_005263458.2:c.904-12T>C	XP_005263515.1:n.904-12T>C
XM_005263460.3:c.781-12T>C	XP_005263517.1:n.781-12T>C
XM_005263461.3:c.781-12T>C	XP_005263518.1:n.781-12T>C
XM_005263462.3:c.781-12T>C	XP_005263519.1:n.781-12T>C
XM_005263463.2:c.535-12T>C	XP_005263520.1:n.535-12T>C
XM_011541495.1:c.901-12T>C	XP_011539797.1:n.901-12T>C
XM_011541496.1:c.904-12T>C	XP_011539798.1:n.904-12T>C
NM_001330358.1:c.904-12T>C	NP_001317287.1:n.904-12T>C
XM_005263460.5:c.781-12T>C	XP_005263517.1:n.781-12T>C
XM_005263462.4:c.781-12T>C	XP_005263519.1:n.781-12T>C
XM_005263463.4:c.535-12T>C	XP_005263520.1:n.535-12T>C
XM_011541495.3:c.901-12T>C	XP_011539797.1:n.901-12T>C
XM_011541496.3:c.904-12T>C	XP_011539798.1:n.904-12T>C
XM_017001328.2:c.904-12T>C	XP_016856817.1:n.904-12T>C
XM_024447198.1:c.535-12T>C	XP_024302966.1:n.535-12T>C
XR_002956640.1:n.1648-12T>C
NM_005957.5:c.781-12T>C MANE Select	NP_005948.3:n.781-12T>C
NM_001330358.2:c.904-12T>C	NP_001317287.1:n.904-12T>C