Canonical Allele Identifier: CA595764

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 501216
• ClinVar RCV Id: RCV000594799 ; RCV002265818
• dbSNP Id: rs373076763
• ExAC: 1:11863171 C / G
• gnomAD v2: 1-11863171-C-G
• gnomAD v3: 1-11803114-C-G
• gnomAD v4: 1-11803114-C-G
• COSMIC: COSM2179317 ; COSM2179318 ; COSM4142246
• MyVariant Identifiers: chr1:g.11863171C>G (hg19) ; chr1:g.11803114C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11803114C>G , CM000663.2:g.11803114C>G	GRCh38
NC_000001.10:g.11863171C>G , CM000663.1:g.11863171C>G	GRCh37
NC_000001.9:g.11785758C>G	NCBI36
NG_008766.1:g.1965C>G
NG_013351.1:g.7990G>C , LRG_726:g.7990G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.3G>C	ENSP00000365669.3:p.Met1Ile
ENST00000376585.6:c.126G>C	ENSP00000365770.1:p.Met42Ile
ENST00000376590.9:c.3G>C MANE Select	ENSP00000365775.3:p.Met1Ile
ENST00000376592.6:c.3G>C	ENSP00000365777.1:p.Met1Ile
ENST00000423400.7:c.123G>C	ENSP00000398908.3:p.Met41Ile
ENST00000431243.6:n.784G>C
ENST00000641407.1:c.3G>C	ENSP00000493098.1:p.Met1Ile
ENST00000641437.1:n.135G>C
ENST00000641446.1:c.3G>C	ENSP00000493262.1:p.Met1Ile
ENST00000641721.1:n.60G>C
ENST00000641747.1:c.3G>C	ENSP00000493116.1:p.Met1Ile
ENST00000641759.1:n.138G>C
ENST00000641805.1:n.286G>C
ENST00000641909.1:n.413G>C
ENST00000642002.1:n.232G>C
ENST00000376486.2:c.3G>C	ENSP00000365669.2:p.Met1Ile
ENST00000376583.7:c.126G>C	ENSP00000365767.3:p.Met42Ile
ENST00000376585.5:c.126G>C	ENSP00000365770.1:p.Met42Ile
ENST00000376590.7:c.3G>C	ENSP00000365775.3:p.Met1Ile
ENST00000376592.5:c.3G>C	ENSP00000365777.1:p.Met1Ile
ENST00000413656.5:c.3G>C	ENSP00000408307.1:p.Met1Ile
ENST00000418034.1:c.3G>C	ENSP00000405082.1:p.Met1Ile
ENST00000423400.5:c.72G>C	ENSP00000398908.1:p.Met24Ile
ENST00000431243.5:c.3G>C	ENSP00000400460.1:p.Met1Ile
NM_005957.4:c.3G>C , LRG_726t1:c.3G>C	NP_005948.3:p.Met1Ile
XM_005263458.2:c.126G>C	XP_005263515.1:p.Met42Ile
XM_005263460.3:c.3G>C	XP_005263517.1:p.Met1Ile
XM_005263461.3:c.3G>C	XP_005263518.1:p.Met1Ile
XM_005263462.3:c.3G>C	XP_005263519.1:p.Met1Ile
XM_005263463.2:c.-261G>C	XP_005263520.1:n.-261G>C
XM_011541495.1:c.123G>C	XP_011539797.1:p.Met41Ile
XM_011541496.1:c.126G>C	XP_011539798.1:p.Met42Ile
NM_001330358.1:c.126G>C	NP_001317287.1:p.Met42Ile
XM_005263460.5:c.3G>C	XP_005263517.1:p.Met1Ile
XM_005263462.4:c.3G>C	XP_005263519.1:p.Met1Ile
XM_005263463.4:c.-261G>C	XP_005263520.1:n.-261G>C
XM_011541495.3:c.123G>C	XP_011539797.1:p.Met41Ile
XM_011541496.3:c.126G>C	XP_011539798.1:p.Met42Ile
XM_017001328.2:c.126G>C	XP_016856817.1:p.Met42Ile
XM_024447198.1:c.-261G>C	XP_024302966.1:n.-261G>C
XR_002956640.1:n.870G>C
NM_005957.5:c.3G>C MANE Select	NP_005948.3:p.Met1Ile
NM_001330358.2:c.126G>C	NP_001317287.1:p.Met42Ile