Canonical Allele Identifier: CA338421994

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11860317T>G (hg19) ; chr1:g.11800260T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800260T>G , CM000663.2:g.11800260T>G	GRCh38
NC_000001.10:g.11860317T>G , CM000663.1:g.11860317T>G	GRCh37
NC_000001.9:g.11782904T>G	NCBI36
NG_013351.1:g.10844A>C , LRG_726:g.10844A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.538A>C	ENSP00000365669.3:p.Lys180Gln
ENST00000376585.6:c.661A>C	ENSP00000365770.1:p.Lys221Gln
ENST00000376590.9:c.538A>C MANE Select	ENSP00000365775.3:p.Lys180Gln
ENST00000376592.6:c.538A>C	ENSP00000365777.1:p.Lys180Gln
ENST00000423400.7:c.658A>C	ENSP00000398908.3:p.Lys220Gln
ENST00000641407.1:c.538A>C	ENSP00000493098.1:p.Lys180Gln
ENST00000641437.1:n.1508A>C
ENST00000641446.1:c.538A>C	ENSP00000493262.1:p.Lys180Gln
ENST00000641721.1:n.595A>C
ENST00000641747.1:c.*50A>C	ENSP00000493116.1:n.*50A>C
ENST00000641759.1:n.673A>C
ENST00000641805.1:n.821A>C
ENST00000641909.1:n.1786A>C
ENST00000376583.7:c.661A>C	ENSP00000365767.3:p.Lys221Gln
ENST00000376585.5:c.661A>C	ENSP00000365770.1:p.Lys221Gln
ENST00000376590.7:c.538A>C	ENSP00000365775.3:p.Lys180Gln
ENST00000376592.5:c.538A>C	ENSP00000365777.1:p.Lys180Gln
NM_005957.4:c.538A>C , LRG_726t1:c.538A>C	NP_005948.3:p.Lys180Gln
XM_005263458.2:c.661A>C	XP_005263515.1:p.Lys221Gln
XM_005263460.3:c.538A>C	XP_005263517.1:p.Lys180Gln
XM_005263461.3:c.538A>C	XP_005263518.1:p.Lys180Gln
XM_005263462.3:c.538A>C	XP_005263519.1:p.Lys180Gln
XM_005263463.2:c.292A>C	XP_005263520.1:p.Lys98Gln
XM_011541495.1:c.658A>C	XP_011539797.1:p.Lys220Gln
XM_011541496.1:c.661A>C	XP_011539798.1:p.Lys221Gln
NM_001330358.1:c.661A>C	NP_001317287.1:p.Lys221Gln
XM_005263460.5:c.538A>C	XP_005263517.1:p.Lys180Gln
XM_005263462.4:c.538A>C	XP_005263519.1:p.Lys180Gln
XM_005263463.4:c.292A>C	XP_005263520.1:p.Lys98Gln
XM_011541495.3:c.658A>C	XP_011539797.1:p.Lys220Gln
XM_011541496.3:c.661A>C	XP_011539798.1:p.Lys221Gln
XM_017001328.2:c.661A>C	XP_016856817.1:p.Lys221Gln
XM_024447198.1:c.292A>C	XP_024302966.1:p.Lys98Gln
XR_002956640.1:n.1405A>C
NM_005957.5:c.538A>C MANE Select	NP_005948.3:p.Lys180Gln
NM_001330358.2:c.661A>C	NP_001317287.1:p.Lys221Gln