Canonical Allele Identifier: CA338480939

Gene: MTHFR

Linked Data

• dbSNP Id: rs780701935
• MyVariant Identifiers: chr1:g.11856405T>G (hg19) ; chr1:g.11796348T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796348T>G , CM000663.2:g.11796348T>G	GRCh38
NC_000001.10:g.11856405T>G , CM000663.1:g.11856405T>G	GRCh37
NC_000001.9:g.11778992T>G	NCBI36
NG_013351.1:g.14756A>C , LRG_726:g.14756A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.638A>C	ENSP00000365669.3:p.His213Pro
ENST00000376585.6:c.761A>C	ENSP00000365770.1:p.His254Pro
ENST00000376590.9:c.638A>C MANE Select	ENSP00000365775.3:p.His213Pro
ENST00000376592.6:c.638A>C	ENSP00000365777.1:p.His213Pro
ENST00000423400.7:c.758A>C	ENSP00000398908.3:p.His253Pro
ENST00000641407.1:c.638A>C	ENSP00000493098.1:p.His213Pro
ENST00000641446.1:c.638A>C	ENSP00000493262.1:p.His213Pro
ENST00000641721.1:n.644-1000A>C
ENST00000641747.1:c.*150A>C	ENSP00000493116.1:n.*150A>C
ENST00000641759.1:n.773A>C
ENST00000641805.1:n.921A>C
ENST00000641820.1:c.-98A>C	ENSP00000492937.1:n.-98A>C
ENST00000376583.7:c.761A>C	ENSP00000365767.3:p.His254Pro
ENST00000376585.5:c.761A>C	ENSP00000365770.1:p.His254Pro
ENST00000376590.7:c.638A>C	ENSP00000365775.3:p.His213Pro
ENST00000376592.5:c.638A>C	ENSP00000365777.1:p.His213Pro
NM_005957.4:c.638A>C , LRG_726t1:c.638A>C	NP_005948.3:p.His213Pro
XM_005263458.2:c.761A>C	XP_005263515.1:p.His254Pro
XM_005263460.3:c.638A>C	XP_005263517.1:p.His213Pro
XM_005263461.3:c.638A>C	XP_005263518.1:p.His213Pro
XM_005263462.3:c.638A>C	XP_005263519.1:p.His213Pro
XM_005263463.2:c.392A>C	XP_005263520.1:p.His131Pro
XM_011541495.1:c.758A>C	XP_011539797.1:p.His253Pro
XM_011541496.1:c.761A>C	XP_011539798.1:p.His254Pro
NM_001330358.1:c.761A>C	NP_001317287.1:p.His254Pro
XM_005263460.5:c.638A>C	XP_005263517.1:p.His213Pro
XM_005263462.4:c.638A>C	XP_005263519.1:p.His213Pro
XM_005263463.4:c.392A>C	XP_005263520.1:p.His131Pro
XM_011541495.3:c.758A>C	XP_011539797.1:p.His253Pro
XM_011541496.3:c.761A>C	XP_011539798.1:p.His254Pro
XM_017001328.2:c.761A>C	XP_016856817.1:p.His254Pro
XM_024447198.1:c.392A>C	XP_024302966.1:p.His131Pro
XR_002956640.1:n.1505A>C
NM_005957.5:c.638A>C MANE Select	NP_005948.3:p.His213Pro
NM_001330358.2:c.761A>C	NP_001317287.1:p.His254Pro