Canonical Allele Identifier: CA338480820

Gene: MTHFR

Linked Data

• dbSNP Id: rs2100539662
• gnomAD v4: 1-11796322-C-G
• MyVariant Identifiers: chr1:g.11856379C>G (hg19) ; chr1:g.11796322C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796322C>G , CM000663.2:g.11796322C>G	GRCh38
NC_000001.10:g.11856379C>G , CM000663.1:g.11856379C>G	GRCh37
NC_000001.9:g.11778966C>G	NCBI36
NG_013351.1:g.14782G>C , LRG_726:g.14782G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.664G>C	ENSP00000365669.3:p.Ala222Pro
ENST00000376585.6:c.787G>C	ENSP00000365770.1:p.Ala263Pro
ENST00000376590.9:c.664G>C MANE Select	ENSP00000365775.3:p.Ala222Pro
ENST00000376592.6:c.664G>C	ENSP00000365777.1:p.Ala222Pro
ENST00000423400.7:c.784G>C	ENSP00000398908.3:p.Ala262Pro
ENST00000641407.1:c.664G>C	ENSP00000493098.1:p.Ala222Pro
ENST00000641446.1:c.664G>C	ENSP00000493262.1:p.Ala222Pro
ENST00000641721.1:n.644-974G>C
ENST00000641747.1:c.*176G>C	ENSP00000493116.1:n.*176G>C
ENST00000641759.1:n.799G>C
ENST00000641805.1:n.947G>C
ENST00000641820.1:c.-72G>C	ENSP00000492937.1:n.-72G>C
ENST00000376583.7:c.787G>C	ENSP00000365767.3:p.Ala263Pro
ENST00000376585.5:c.787G>C	ENSP00000365770.1:p.Ala263Pro
ENST00000376590.7:c.664G>C	ENSP00000365775.3:p.Ala222Pro
ENST00000376592.5:c.664G>C	ENSP00000365777.1:p.Ala222Pro
NM_005957.4:c.664G>C , LRG_726t1:c.664G>C	NP_005948.3:p.Ala222Pro
XM_005263458.2:c.787G>C	XP_005263515.1:p.Ala263Pro
XM_005263460.3:c.664G>C	XP_005263517.1:p.Ala222Pro
XM_005263461.3:c.664G>C	XP_005263518.1:p.Ala222Pro
XM_005263462.3:c.664G>C	XP_005263519.1:p.Ala222Pro
XM_005263463.2:c.418G>C	XP_005263520.1:p.Ala140Pro
XM_011541495.1:c.784G>C	XP_011539797.1:p.Ala262Pro
XM_011541496.1:c.787G>C	XP_011539798.1:p.Ala263Pro
NM_001330358.1:c.787G>C	NP_001317287.1:p.Ala263Pro
XM_005263460.5:c.664G>C	XP_005263517.1:p.Ala222Pro
XM_005263462.4:c.664G>C	XP_005263519.1:p.Ala222Pro
XM_005263463.4:c.418G>C	XP_005263520.1:p.Ala140Pro
XM_011541495.3:c.784G>C	XP_011539797.1:p.Ala262Pro
XM_011541496.3:c.787G>C	XP_011539798.1:p.Ala263Pro
XM_017001328.2:c.787G>C	XP_016856817.1:p.Ala263Pro
XM_024447198.1:c.418G>C	XP_024302966.1:p.Ala140Pro
XR_002956640.1:n.1531G>C
NM_005957.5:c.664G>C MANE Select	NP_005948.3:p.Ala222Pro
NM_001330358.2:c.787G>C	NP_001317287.1:p.Ala263Pro