Canonical Allele Identifier: CA338474274

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11851271A>G (hg19) ; chr1:g.11791214A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791214A>G , CM000663.2:g.11791214A>G	GRCh38
NC_000001.10:g.11851271A>G , CM000663.1:g.11851271A>G	GRCh37
NC_000001.9:g.11773858A>G	NCBI36
NG_013351.1:g.19890T>C , LRG_726:g.19890T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1868T>C	ENSP00000365770.1:p.Phe623Ser
ENST00000376590.9:c.1745T>C MANE Select	ENSP00000365775.3:p.Phe582Ser
ENST00000376592.6:c.1745T>C	ENSP00000365777.1:p.Phe582Ser
ENST00000423400.7:c.1865T>C	ENSP00000398908.3:p.Phe622Ser
ENST00000641407.1:c.1745T>C	ENSP00000493098.1:p.Phe582Ser
ENST00000641446.1:c.*204T>C	ENSP00000493262.1:n.*204T>C
ENST00000641747.1:c.*1257T>C	ENSP00000493116.1:n.*1257T>C
ENST00000641759.1:n.2114T>C
ENST00000641805.1:n.2262T>C
ENST00000641820.1:c.1010T>C	ENSP00000492937.1:p.Phe337Ser
ENST00000376583.7:c.1868T>C	ENSP00000365767.3:p.Phe623Ser
ENST00000376585.5:c.1868T>C	ENSP00000365770.1:p.Phe623Ser
ENST00000376590.7:c.1745T>C	ENSP00000365775.3:p.Phe582Ser
ENST00000376592.5:c.1745T>C	ENSP00000365777.1:p.Phe582Ser
NM_005957.4:c.1745T>C , LRG_726t1:c.1745T>C	NP_005948.3:p.Phe582Ser
XM_005263458.2:c.1868T>C	XP_005263515.1:p.Phe623Ser
XM_005263460.3:c.1745T>C	XP_005263517.1:p.Phe582Ser
XM_005263461.3:c.1745T>C	XP_005263518.1:p.Phe582Ser
XM_005263462.3:c.1745T>C	XP_005263519.1:p.Phe582Ser
XM_005263463.2:c.1499T>C	XP_005263520.1:p.Phe500Ser
XM_011541495.1:c.1865T>C	XP_011539797.1:p.Phe622Ser
XM_011541496.1:c.1868T>C	XP_011539798.1:p.Phe623Ser
NM_001330358.1:c.1868T>C	NP_001317287.1:p.Phe623Ser
XM_005263460.5:c.1745T>C	XP_005263517.1:p.Phe582Ser
XM_005263462.4:c.1745T>C	XP_005263519.1:p.Phe582Ser
XM_005263463.4:c.1499T>C	XP_005263520.1:p.Phe500Ser
XM_011541495.3:c.1865T>C	XP_011539797.1:p.Phe622Ser
XM_011541496.3:c.1868T>C	XP_011539798.1:p.Phe623Ser
XM_017001328.2:c.1868T>C	XP_016856817.1:p.Phe623Ser
XM_024447198.1:c.1499T>C	XP_024302966.1:p.Phe500Ser
XR_002956640.1:n.2846T>C
NM_005957.5:c.1745T>C MANE Select	NP_005948.3:p.Phe582Ser
NM_001330358.2:c.1868T>C	NP_001317287.1:p.Phe623Ser