Canonical Allele Identifier: CA595397

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2676849
• ClinVar RCV Id: RCV003461971
• dbSNP Id: rs754015864
• ExAC: 1:11854458 A / G
• gnomAD v2: 1-11854458-A-G
• gnomAD v4: 1-11794401-A-G
• MyVariant Identifiers: chr1:g.11854458A>G (hg19) ; chr1:g.11794401A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794401A>G , CM000663.2:g.11794401A>G	GRCh38
NC_000001.10:g.11854458A>G , CM000663.1:g.11854458A>G	GRCh37
NC_000001.9:g.11777045A>G	NCBI36
NG_013351.1:g.16703T>C , LRG_726:g.16703T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1427T>C	ENSP00000365770.1:p.Phe476Ser
ENST00000376590.9:c.1304T>C MANE Select	ENSP00000365775.3:p.Phe435Ser
ENST00000376592.6:c.1304T>C	ENSP00000365777.1:p.Phe435Ser
ENST00000423400.7:c.1424T>C	ENSP00000398908.3:p.Phe475Ser
ENST00000641407.1:c.1304T>C	ENSP00000493098.1:p.Phe435Ser
ENST00000641446.1:c.1304T>C	ENSP00000493262.1:p.Phe435Ser
ENST00000641747.1:c.*816T>C	ENSP00000493116.1:n.*816T>C
ENST00000641759.1:n.1673T>C
ENST00000641805.1:n.1821T>C
ENST00000641820.1:c.569T>C	ENSP00000492937.1:p.Phe190Ser
ENST00000376583.7:c.1427T>C	ENSP00000365767.3:p.Phe476Ser
ENST00000376585.5:c.1427T>C	ENSP00000365770.1:p.Phe476Ser
ENST00000376590.7:c.1304T>C	ENSP00000365775.3:p.Phe435Ser
ENST00000376592.5:c.1304T>C	ENSP00000365777.1:p.Phe435Ser
NM_005957.4:c.1304T>C , LRG_726t1:c.1304T>C	NP_005948.3:p.Phe435Ser
XM_005263458.2:c.1427T>C	XP_005263515.1:p.Phe476Ser
XM_005263460.3:c.1304T>C	XP_005263517.1:p.Phe435Ser
XM_005263461.3:c.1304T>C	XP_005263518.1:p.Phe435Ser
XM_005263462.3:c.1304T>C	XP_005263519.1:p.Phe435Ser
XM_005263463.2:c.1058T>C	XP_005263520.1:p.Phe353Ser
XM_011541495.1:c.1424T>C	XP_011539797.1:p.Phe475Ser
XM_011541496.1:c.1427T>C	XP_011539798.1:p.Phe476Ser
NM_001330358.1:c.1427T>C	NP_001317287.1:p.Phe476Ser
XM_005263460.5:c.1304T>C	XP_005263517.1:p.Phe435Ser
XM_005263462.4:c.1304T>C	XP_005263519.1:p.Phe435Ser
XM_005263463.4:c.1058T>C	XP_005263520.1:p.Phe353Ser
XM_011541495.3:c.1424T>C	XP_011539797.1:p.Phe475Ser
XM_011541496.3:c.1427T>C	XP_011539798.1:p.Phe476Ser
XM_017001328.2:c.1427T>C	XP_016856817.1:p.Phe476Ser
XM_024447198.1:c.1058T>C	XP_024302966.1:p.Phe353Ser
XR_002956640.1:n.2405T>C
NM_005957.5:c.1304T>C MANE Select	NP_005948.3:p.Phe435Ser
NM_001330358.2:c.1427T>C	NP_001317287.1:p.Phe476Ser