Canonical Allele Identifier: CA521192355

Gene: MTHFR

Linked Data

• dbSNP Id: rs1442992414
• gnomAD v2: 1-11850307-C-T
• gnomAD v3: 1-11790250-C-T
• gnomAD v4: 1-11790250-C-T
• MyVariant Identifiers: chr1:g.11850307C>T (hg19) ; chr1:g.11790250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790250C>T , CM000663.2:g.11790250C>T	GRCh38
NC_000001.10:g.11850307C>T , CM000663.1:g.11850307C>T	GRCh37
NC_000001.9:g.11772894C>T	NCBI36
NG_013351.1:g.20854G>A , LRG_726:g.20854G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*430G>A	ENSP00000365770.1:n.*430G>A
ENST00000376590.9:c.*430G>A MANE Select	ENSP00000365775.3:n.*430G>A
ENST00000376592.6:c.*430G>A	ENSP00000365777.1:n.*430G>A
ENST00000423400.7:c.*430G>A	ENSP00000398908.3:n.*430G>A
ENST00000641446.1:c.*860G>A	ENSP00000493262.1:n.*860G>A
ENST00000641747.1:c.*1913G>A	ENSP00000493116.1:n.*1913G>A
ENST00000641805.1:n.2736G>A
ENST00000376583.7:c.2524G>A	ENSP00000365767.3:n.2524G>A
ENST00000376585.5:c.*430G>A	ENSP00000365770.1:n.*430G>A
ENST00000376590.7:c.*430G>A	ENSP00000365775.3:n.*430G>A
ENST00000376592.5:c.*430G>A	ENSP00000365777.1:n.*430G>A
NM_005957.4:c.*430G>A , LRG_726t1:c.*430G>A	NP_005948.3:n.*430G>A
XM_005263458.2:c.*430G>A	XP_005263515.1:n.*430G>A
XM_005263460.3:c.*430G>A	XP_005263517.1:n.*430G>A
XM_005263461.3:c.*430G>A	XP_005263518.1:n.*430G>A
XM_005263462.3:c.*430G>A	XP_005263519.1:n.*430G>A
XM_005263463.2:c.*430G>A	XP_005263520.1:n.*430G>A
XM_011541495.1:c.*430G>A	XP_011539797.1:n.*430G>A
XM_011541496.1:c.*290G>A	XP_011539798.1:n.*290G>A
NM_001330358.1:c.*430G>A	NP_001317287.1:n.*430G>A
XM_005263460.5:c.*430G>A	XP_005263517.1:n.*430G>A
XM_005263462.4:c.*430G>A	XP_005263519.1:n.*430G>A
XM_005263463.4:c.*430G>A	XP_005263520.1:n.*430G>A
XM_011541495.3:c.*430G>A	XP_011539797.1:n.*430G>A
XM_011541496.3:c.*290G>A	XP_011539798.1:n.*290G>A
XM_024447198.1:c.*430G>A	XP_024302966.1:n.*430G>A
NM_005957.5:c.*430G>A MANE Select	NP_005948.3:n.*430G>A
NM_001330358.2:c.*430G>A	NP_001317287.1:n.*430G>A