Canonical Allele Identifier: CA17974676

Gene: MTHFR

Linked Data

• dbSNP Id: rs965403404
• gnomAD v2: 1-11861263-T-C
• gnomAD v4: 1-11801206-T-C
• MyVariant Identifiers: chr1:g.11861263T>C (hg19) ; chr1:g.11801206T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801206T>C , CM000663.2:g.11801206T>C	GRCh38
NC_000001.10:g.11861263T>C , CM000663.1:g.11861263T>C	GRCh37
NC_000001.9:g.11783850T>C	NCBI36
NG_008766.1:g.57T>C
NG_013351.1:g.9898A>G , LRG_726:g.9898A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.430A>G	ENSP00000365669.3:p.Lys144Glu
ENST00000376585.6:c.553A>G	ENSP00000365770.1:p.Lys185Glu
ENST00000376590.9:c.430A>G MANE Select	ENSP00000365775.3:p.Lys144Glu
ENST00000376592.6:c.430A>G	ENSP00000365777.1:p.Lys144Glu
ENST00000423400.7:c.550A>G	ENSP00000398908.3:p.Lys184Glu
ENST00000641407.1:c.430A>G	ENSP00000493098.1:p.Lys144Glu
ENST00000641437.1:n.562A>G
ENST00000641446.1:c.430A>G	ENSP00000493262.1:p.Lys144Glu
ENST00000641721.1:n.487A>G
ENST00000641747.1:c.237-884A>G	ENSP00000493116.1:n.237-884A>G
ENST00000641759.1:n.565A>G
ENST00000641805.1:n.713A>G
ENST00000641909.1:n.840A>G
ENST00000376583.7:c.553A>G	ENSP00000365767.3:p.Lys185Glu
ENST00000376585.5:c.553A>G	ENSP00000365770.1:p.Lys185Glu
ENST00000376590.7:c.430A>G	ENSP00000365775.3:p.Lys144Glu
ENST00000376592.5:c.430A>G	ENSP00000365777.1:p.Lys144Glu
ENST00000418034.1:c.430A>G
NM_005957.4:c.430A>G , LRG_726t1:c.430A>G	NP_005948.3:p.Lys144Glu
XM_005263458.2:c.553A>G	XP_005263515.1:p.Lys185Glu
XM_005263460.3:c.430A>G	XP_005263517.1:p.Lys144Glu
XM_005263461.3:c.430A>G	XP_005263518.1:p.Lys144Glu
XM_005263462.3:c.430A>G	XP_005263519.1:p.Lys144Glu
XM_005263463.2:c.184A>G	XP_005263520.1:p.Lys62Glu
XM_011541495.1:c.550A>G	XP_011539797.1:p.Lys184Glu
XM_011541496.1:c.553A>G	XP_011539798.1:p.Lys185Glu
NM_001330358.1:c.553A>G	NP_001317287.1:p.Lys185Glu
XM_005263460.5:c.430A>G	XP_005263517.1:p.Lys144Glu
XM_005263462.4:c.430A>G	XP_005263519.1:p.Lys144Glu
XM_005263463.4:c.184A>G	XP_005263520.1:p.Lys62Glu
XM_011541495.3:c.550A>G	XP_011539797.1:p.Lys184Glu
XM_011541496.3:c.553A>G	XP_011539798.1:p.Lys185Glu
XM_017001328.2:c.553A>G	XP_016856817.1:p.Lys185Glu
XM_024447198.1:c.184A>G	XP_024302966.1:p.Lys62Glu
XR_002956640.1:n.1297A>G
NM_005957.5:c.430A>G MANE Select	NP_005948.3:p.Lys144Glu
NM_001330358.2:c.553A>G	NP_001317287.1:p.Lys185Glu