Canonical Allele Identifier: CA338480288

Gene: MTHFR

Linked Data

• dbSNP Id: rs1479160387
• gnomAD v2: 1-11855297-A-G
• gnomAD v4: 1-11795240-A-G
• MyVariant Identifiers: chr1:g.11855297A>G (hg19) ; chr1:g.11795240A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795240A>G , CM000663.2:g.11795240A>G	GRCh38
NC_000001.10:g.11855297A>G , CM000663.1:g.11855297A>G	GRCh37
NC_000001.9:g.11777884A>G	NCBI36
NG_013351.1:g.15864T>C , LRG_726:g.15864T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1012T>C	ENSP00000365770.1:p.Tyr338His
ENST00000376590.9:c.889T>C MANE Select	ENSP00000365775.3:p.Tyr297His
ENST00000376592.6:c.889T>C	ENSP00000365777.1:p.Tyr297His
ENST00000423400.7:c.1009T>C	ENSP00000398908.3:p.Tyr337His
ENST00000641407.1:c.889T>C	ENSP00000493098.1:p.Tyr297His
ENST00000641446.1:c.889T>C	ENSP00000493262.1:p.Tyr297His
ENST00000641721.1:n.752T>C
ENST00000641747.1:c.*401T>C	ENSP00000493116.1:n.*401T>C
ENST00000641759.1:n.1024T>C
ENST00000641805.1:n.1172T>C
ENST00000641820.1:c.154T>C	ENSP00000492937.1:p.Tyr52His
ENST00000376583.7:c.1012T>C	ENSP00000365767.3:p.Tyr338His
ENST00000376585.5:c.1012T>C	ENSP00000365770.1:p.Tyr338His
ENST00000376590.7:c.889T>C	ENSP00000365775.3:p.Tyr297His
ENST00000376592.5:c.889T>C	ENSP00000365777.1:p.Tyr297His
NM_005957.4:c.889T>C , LRG_726t1:c.889T>C	NP_005948.3:p.Tyr297His
XM_005263458.2:c.1012T>C	XP_005263515.1:p.Tyr338His
XM_005263460.3:c.889T>C	XP_005263517.1:p.Tyr297His
XM_005263461.3:c.889T>C	XP_005263518.1:p.Tyr297His
XM_005263462.3:c.889T>C	XP_005263519.1:p.Tyr297His
XM_005263463.2:c.643T>C	XP_005263520.1:p.Tyr215His
XM_011541495.1:c.1009T>C	XP_011539797.1:p.Tyr337His
XM_011541496.1:c.1012T>C	XP_011539798.1:p.Tyr338His
NM_001330358.1:c.1012T>C	NP_001317287.1:p.Tyr338His
XM_005263460.5:c.889T>C	XP_005263517.1:p.Tyr297His
XM_005263462.4:c.889T>C	XP_005263519.1:p.Tyr297His
XM_005263463.4:c.643T>C	XP_005263520.1:p.Tyr215His
XM_011541495.3:c.1009T>C	XP_011539797.1:p.Tyr337His
XM_011541496.3:c.1012T>C	XP_011539798.1:p.Tyr338His
XM_017001328.2:c.1012T>C	XP_016856817.1:p.Tyr338His
XM_024447198.1:c.643T>C	XP_024302966.1:p.Tyr215His
XR_002956640.1:n.1756T>C
NM_005957.5:c.889T>C MANE Select	NP_005948.3:p.Tyr297His
NM_001330358.2:c.1012T>C	NP_001317287.1:p.Tyr338His