Canonical Allele Identifier: CA338474379
Gene: MTHFR HGNC NCBI

Linked Data

gnomAD v4: 1-11791239-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11791239C>G , CM000663.2:g.11791239C>G GRCh38
NC_000001.10:g.11851296C>G , CM000663.1:g.11851296C>G GRCh37
NC_000001.9:g.11773883C>G NCBI36
NG_013351.1:g.19865G>C , LRG_726:g.19865G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1843G>C ENSP00000365770.1:p.Val615Leu
ENST00000376590.9:c.1720G>C MANE Select ENSP00000365775.3:p.Val574Leu
ENST00000376592.6:c.1720G>C ENSP00000365777.1:p.Val574Leu
ENST00000423400.7:c.1840G>C ENSP00000398908.3:p.Val614Leu
ENST00000641407.1:c.1720G>C ENSP00000493098.1:p.Val574Leu
ENST00000641446.1:c.*179G>C ENSP00000493262.1:n.*179G>C
ENST00000641747.1:c.*1232G>C ENSP00000493116.1:n.*1232G>C
ENST00000641759.1:n.2089G>C
ENST00000641805.1:n.2237G>C
ENST00000641820.1:c.985G>C ENSP00000492937.1:p.Val329Leu
ENST00000376583.7:c.1843G>C ENSP00000365767.3:p.Val615Leu
ENST00000376585.5:c.1843G>C ENSP00000365770.1:p.Val615Leu
ENST00000376590.7:c.1720G>C ENSP00000365775.3:p.Val574Leu
ENST00000376592.5:c.1720G>C ENSP00000365777.1:p.Val574Leu
NM_005957.4:c.1720G>C , LRG_726t1:c.1720G>C NP_005948.3:p.Val574Leu
XM_005263458.2:c.1843G>C XP_005263515.1:p.Val615Leu
XM_005263460.3:c.1720G>C XP_005263517.1:p.Val574Leu
XM_005263461.3:c.1720G>C XP_005263518.1:p.Val574Leu
XM_005263462.3:c.1720G>C XP_005263519.1:p.Val574Leu
XM_005263463.2:c.1474G>C XP_005263520.1:p.Val492Leu
XM_011541495.1:c.1840G>C XP_011539797.1:p.Val614Leu
XM_011541496.1:c.1843G>C XP_011539798.1:p.Val615Leu
NM_001330358.1:c.1843G>C NP_001317287.1:p.Val615Leu
XM_005263460.5:c.1720G>C XP_005263517.1:p.Val574Leu
XM_005263462.4:c.1720G>C XP_005263519.1:p.Val574Leu
XM_005263463.4:c.1474G>C XP_005263520.1:p.Val492Leu
XM_011541495.3:c.1840G>C XP_011539797.1:p.Val614Leu
XM_011541496.3:c.1843G>C XP_011539798.1:p.Val615Leu
XM_017001328.2:c.1843G>C XP_016856817.1:p.Val615Leu
XM_024447198.1:c.1474G>C XP_024302966.1:p.Val492Leu
XR_002956640.1:n.2821G>C
NM_005957.5:c.1720G>C MANE Select NP_005948.3:p.Val574Leu
NM_001330358.2:c.1843G>C NP_001317287.1:p.Val615Leu