Canonical Allele Identifier: CA595445

Gene: MTHFR

Linked Data

• dbSNP Id: rs753424131
• ExAC: 1:11854834 C / G
• gnomAD v2: 1-11854834-C-G
• gnomAD v4: 1-11794777-C-G
• MyVariant Identifiers: chr1:g.11854834C>G (hg19) ; chr1:g.11794777C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794777C>G , CM000663.2:g.11794777C>G	GRCh38
NC_000001.10:g.11854834C>G , CM000663.1:g.11854834C>G	GRCh37
NC_000001.9:g.11777421C>G	NCBI36
NG_013351.1:g.16327G>C , LRG_726:g.16327G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1241G>C	ENSP00000365770.1:p.Ser414Thr
ENST00000376590.9:c.1118G>C MANE Select	ENSP00000365775.3:p.Ser373Thr
ENST00000376592.6:c.1118G>C	ENSP00000365777.1:p.Ser373Thr
ENST00000423400.7:c.1238G>C	ENSP00000398908.3:p.Ser413Thr
ENST00000641407.1:c.1118G>C	ENSP00000493098.1:p.Ser373Thr
ENST00000641446.1:c.1118G>C	ENSP00000493262.1:p.Ser373Thr
ENST00000641747.1:c.*630G>C	ENSP00000493116.1:n.*630G>C
ENST00000641759.1:n.1487G>C
ENST00000641805.1:n.1635G>C
ENST00000641820.1:c.383G>C	ENSP00000492937.1:p.Ser128Thr
ENST00000376583.7:c.1241G>C	ENSP00000365767.3:p.Ser414Thr
ENST00000376585.5:c.1241G>C	ENSP00000365770.1:p.Ser414Thr
ENST00000376590.7:c.1118G>C	ENSP00000365775.3:p.Ser373Thr
ENST00000376592.5:c.1118G>C	ENSP00000365777.1:p.Ser373Thr
NM_005957.4:c.1118G>C , LRG_726t1:c.1118G>C	NP_005948.3:p.Ser373Thr
XM_005263458.2:c.1241G>C	XP_005263515.1:p.Ser414Thr
XM_005263460.3:c.1118G>C	XP_005263517.1:p.Ser373Thr
XM_005263461.3:c.1118G>C	XP_005263518.1:p.Ser373Thr
XM_005263462.3:c.1118G>C	XP_005263519.1:p.Ser373Thr
XM_005263463.2:c.872G>C	XP_005263520.1:p.Ser291Thr
XM_011541495.1:c.1238G>C	XP_011539797.1:p.Ser413Thr
XM_011541496.1:c.1241G>C	XP_011539798.1:p.Ser414Thr
NM_001330358.1:c.1241G>C	NP_001317287.1:p.Ser414Thr
XM_005263460.5:c.1118G>C	XP_005263517.1:p.Ser373Thr
XM_005263462.4:c.1118G>C	XP_005263519.1:p.Ser373Thr
XM_005263463.4:c.872G>C	XP_005263520.1:p.Ser291Thr
XM_011541495.3:c.1238G>C	XP_011539797.1:p.Ser413Thr
XM_011541496.3:c.1241G>C	XP_011539798.1:p.Ser414Thr
XM_017001328.2:c.1241G>C	XP_016856817.1:p.Ser414Thr
XM_024447198.1:c.872G>C	XP_024302966.1:p.Ser291Thr
XR_002956640.1:n.2219G>C
NM_005957.5:c.1118G>C MANE Select	NP_005948.3:p.Ser373Thr
NM_001330358.2:c.1241G>C	NP_001317287.1:p.Ser414Thr