Canonical Allele Identifier: CA338421999

Gene: MTHFR

Linked Data

• dbSNP Id: rs1424071829
• gnomAD v2: 1-11860320-C-A
• gnomAD v4: 1-11800263-C-A
• MyVariant Identifiers: chr1:g.11860320C>A (hg19) ; chr1:g.11800263C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800263C>A , CM000663.2:g.11800263C>A	GRCh38
NC_000001.10:g.11860320C>A , CM000663.1:g.11860320C>A	GRCh37
NC_000001.9:g.11782907C>A	NCBI36
NG_013351.1:g.10841G>T , LRG_726:g.10841G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.535G>T	ENSP00000365669.3:p.Val179Leu
ENST00000376585.6:c.658G>T	ENSP00000365770.1:p.Val220Leu
ENST00000376590.9:c.535G>T MANE Select	ENSP00000365775.3:p.Val179Leu
ENST00000376592.6:c.535G>T	ENSP00000365777.1:p.Val179Leu
ENST00000423400.7:c.655G>T	ENSP00000398908.3:p.Val219Leu
ENST00000641407.1:c.535G>T	ENSP00000493098.1:p.Val179Leu
ENST00000641437.1:n.1505G>T
ENST00000641446.1:c.535G>T	ENSP00000493262.1:p.Val179Leu
ENST00000641721.1:n.592G>T
ENST00000641747.1:c.*47G>T	ENSP00000493116.1:n.*47G>T
ENST00000641759.1:n.670G>T
ENST00000641805.1:n.818G>T
ENST00000641909.1:n.1783G>T
ENST00000376583.7:c.658G>T	ENSP00000365767.3:p.Val220Leu
ENST00000376585.5:c.658G>T	ENSP00000365770.1:p.Val220Leu
ENST00000376590.7:c.535G>T	ENSP00000365775.3:p.Val179Leu
ENST00000376592.5:c.535G>T	ENSP00000365777.1:p.Val179Leu
NM_005957.4:c.535G>T , LRG_726t1:c.535G>T	NP_005948.3:p.Val179Leu
XM_005263458.2:c.658G>T	XP_005263515.1:p.Val220Leu
XM_005263460.3:c.535G>T	XP_005263517.1:p.Val179Leu
XM_005263461.3:c.535G>T	XP_005263518.1:p.Val179Leu
XM_005263462.3:c.535G>T	XP_005263519.1:p.Val179Leu
XM_005263463.2:c.289G>T	XP_005263520.1:p.Val97Leu
XM_011541495.1:c.655G>T	XP_011539797.1:p.Val219Leu
XM_011541496.1:c.658G>T	XP_011539798.1:p.Val220Leu
NM_001330358.1:c.658G>T	NP_001317287.1:p.Val220Leu
XM_005263460.5:c.535G>T	XP_005263517.1:p.Val179Leu
XM_005263462.4:c.535G>T	XP_005263519.1:p.Val179Leu
XM_005263463.4:c.289G>T	XP_005263520.1:p.Val97Leu
XM_011541495.3:c.655G>T	XP_011539797.1:p.Val219Leu
XM_011541496.3:c.658G>T	XP_011539798.1:p.Val220Leu
XM_017001328.2:c.658G>T	XP_016856817.1:p.Val220Leu
XM_024447198.1:c.289G>T	XP_024302966.1:p.Val97Leu
XR_002956640.1:n.1402G>T
NM_005957.5:c.535G>T MANE Select	NP_005948.3:p.Val179Leu
NM_001330358.2:c.658G>T	NP_001317287.1:p.Val220Leu