Canonical Allele Identifier: CA595519

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 292240
• ClinVar RCV Id: RCV001510133 ; RCV001701936
• dbSNP Id: rs141769179
• ExAC: 1:11855316 G / A
• gnomAD v2: 1-11855316-G-A
• gnomAD v3: 1-11795259-G-A
• gnomAD v4: 1-11795259-G-A
• MyVariant Identifiers: chr1:g.11855316G>A (hg19) ; chr1:g.11795259G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795259G>A , CM000663.2:g.11795259G>A	GRCh38
NC_000001.10:g.11855316G>A , CM000663.1:g.11855316G>A	GRCh37
NC_000001.9:g.11777903G>A	NCBI36
NG_013351.1:g.15845C>T , LRG_726:g.15845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.993C>T	ENSP00000365770.1:p.Asn331=
ENST00000376590.9:c.870C>T MANE Select	ENSP00000365775.3:p.Asn290=
ENST00000376592.6:c.870C>T	ENSP00000365777.1:p.Asn290=
ENST00000423400.7:c.990C>T	ENSP00000398908.3:p.Asn330=
ENST00000641407.1:c.870C>T	ENSP00000493098.1:p.Asn290=
ENST00000641446.1:c.870C>T	ENSP00000493262.1:p.Asn290=
ENST00000641721.1:n.733C>T
ENST00000641747.1:c.*382C>T	ENSP00000493116.1:n.*382C>T
ENST00000641759.1:n.1005C>T
ENST00000641805.1:n.1153C>T
ENST00000641820.1:c.135C>T	ENSP00000492937.1:p.Asn45=
ENST00000376583.7:c.993C>T	ENSP00000365767.3:p.Asn331=
ENST00000376585.5:c.993C>T	ENSP00000365770.1:p.Asn331=
ENST00000376590.7:c.870C>T	ENSP00000365775.3:p.Asn290=
ENST00000376592.5:c.870C>T	ENSP00000365777.1:p.Asn290=
NM_005957.4:c.870C>T , LRG_726t1:c.870C>T	NP_005948.3:p.Asn290=
XM_005263458.2:c.993C>T	XP_005263515.1:p.Asn331=
XM_005263460.3:c.870C>T	XP_005263517.1:p.Asn290=
XM_005263461.3:c.870C>T	XP_005263518.1:p.Asn290=
XM_005263462.3:c.870C>T	XP_005263519.1:p.Asn290=
XM_005263463.2:c.624C>T	XP_005263520.1:p.Asn208=
XM_011541495.1:c.990C>T	XP_011539797.1:p.Asn330=
XM_011541496.1:c.993C>T	XP_011539798.1:p.Asn331=
NM_001330358.1:c.993C>T	NP_001317287.1:p.Asn331=
XM_005263460.5:c.870C>T	XP_005263517.1:p.Asn290=
XM_005263462.4:c.870C>T	XP_005263519.1:p.Asn290=
XM_005263463.4:c.624C>T	XP_005263520.1:p.Asn208=
XM_011541495.3:c.990C>T	XP_011539797.1:p.Asn330=
XM_011541496.3:c.993C>T	XP_011539798.1:p.Asn331=
XM_017001328.2:c.993C>T	XP_016856817.1:p.Asn331=
XM_024447198.1:c.624C>T	XP_024302966.1:p.Asn208=
XR_002956640.1:n.1737C>T
NM_005957.5:c.870C>T MANE Select	NP_005948.3:p.Asn290=
NM_001330358.2:c.993C>T	NP_001317287.1:p.Asn331=