Canonical Allele Identifier: CA416120836
Gene: MTHFR HGNC NCBI

Linked Data

dbSNP Id: rs756691180
MyVariant Identifiers: chr1:g.11856389C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11796332C>A , CM000663.2:g.11796332C>A GRCh38
NC_000001.10:g.11856389C>A , CM000663.1:g.11856389C>A GRCh37
NC_000001.9:g.11778976C>A NCBI36
NG_013351.1:g.14772G>T , LRG_726:g.14772G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376486.3:c.654G>T ENSP00000365669.3:p.Val218=
ENST00000376585.6:c.777G>T ENSP00000365770.1:p.Val259=
ENST00000376590.9:c.654G>T MANE Select ENSP00000365775.3:p.Val218=
ENST00000376592.6:c.654G>T ENSP00000365777.1:p.Val218=
ENST00000423400.7:c.774G>T ENSP00000398908.3:p.Val258=
ENST00000641407.1:c.654G>T ENSP00000493098.1:p.Val218=
ENST00000641446.1:c.654G>T ENSP00000493262.1:p.Val218=
ENST00000641721.1:n.644-984G>T
ENST00000641747.1:c.*166G>T ENSP00000493116.1:n.*166G>T
ENST00000641759.1:n.789G>T
ENST00000641805.1:n.937G>T
ENST00000641820.1:c.-82G>T ENSP00000492937.1:n.-82G>T
ENST00000376583.7:c.777G>T ENSP00000365767.3:p.Val259=
ENST00000376585.5:c.777G>T ENSP00000365770.1:p.Val259=
ENST00000376590.7:c.654G>T ENSP00000365775.3:p.Val218=
ENST00000376592.5:c.654G>T ENSP00000365777.1:p.Val218=
NM_005957.4:c.654G>T , LRG_726t1:c.654G>T NP_005948.3:p.Val218=
XM_005263458.2:c.777G>T XP_005263515.1:p.Val259=
XM_005263460.3:c.654G>T XP_005263517.1:p.Val218=
XM_005263461.3:c.654G>T XP_005263518.1:p.Val218=
XM_005263462.3:c.654G>T XP_005263519.1:p.Val218=
XM_005263463.2:c.408G>T XP_005263520.1:p.Val136=
XM_011541495.1:c.774G>T XP_011539797.1:p.Val258=
XM_011541496.1:c.777G>T XP_011539798.1:p.Val259=
NM_001330358.1:c.777G>T NP_001317287.1:p.Val259=
XM_005263460.5:c.654G>T XP_005263517.1:p.Val218=
XM_005263462.4:c.654G>T XP_005263519.1:p.Val218=
XM_005263463.4:c.408G>T XP_005263520.1:p.Val136=
XM_011541495.3:c.774G>T XP_011539797.1:p.Val258=
XM_011541496.3:c.777G>T XP_011539798.1:p.Val259=
XM_017001328.2:c.777G>T XP_016856817.1:p.Val259=
XM_024447198.1:c.408G>T XP_024302966.1:p.Val136=
XR_002956640.1:n.1521G>T
NM_005957.5:c.654G>T MANE Select NP_005948.3:p.Val218=
NM_001330358.2:c.777G>T NP_001317287.1:p.Val259=