Canonical Allele Identifier: CA10607501

Gene: MTHFR C1orf167

Linked Data

• dbSNP Id: rs886045188
• gnomAD v2: 1-11849920-C-T
• gnomAD v3: 1-11789863-C-T
• gnomAD v4: 1-11789863-C-T
• MyVariant Identifiers: chr1:g.11849920C>T (hg19) ; chr1:g.11789863C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11789863C>T , CM000663.2:g.11789863C>T	GRCh38
NC_000001.10:g.11849920C>T , CM000663.1:g.11849920C>T	GRCh37
NC_000001.9:g.11772507C>T	NCBI36
NG_013351.1:g.21241G>A , LRG_726:g.21241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*817G>A (MTHFR)	ENSP00000365770.1:n.*817G>A
ENST00000376590.9:c.*817G>A (MTHFR) MANE Select	ENSP00000365775.3:n.*817G>A
ENST00000376592.6:c.*817G>A (MTHFR)	ENSP00000365777.1:n.*817G>A
ENST00000641747.1:c.*2300G>A (MTHFR)	ENSP00000493116.1:n.*2300G>A
ENST00000376583.7:c.2911G>A (MTHFR)	ENSP00000365767.3:n.2911G>A
ENST00000376585.5:c.*817G>A (MTHFR)	ENSP00000365770.1:n.*817G>A
ENST00000376590.7:c.*817G>A (MTHFR)	ENSP00000365775.3:n.*817G>A
ENST00000376592.5:c.*817G>A (MTHFR)	ENSP00000365777.1:n.*817G>A
NM_005957.4:c.*817G>A , LRG_726t1:c.*817G>A (MTHFR)	NP_005948.3:n.*817G>A
NM_001330358.1:c.*817G>A (MTHFR)	NP_001317287.1:n.*817G>A
XM_011541272.3:c.*417C>T (C1orf167)	XP_011539574.1:n.*417C>T
XM_011541276.3:c.*404C>T (C1orf167)	XP_011539578.1:n.*404C>T
XM_011541277.3:c.*417C>T (C1orf167)	XP_011539579.1:n.*417C>T
XM_024446506.1:c.*820C>T (C1orf167)	XP_024302274.1:n.*820C>T
XM_024446507.1:c.*820C>T (C1orf167)	XP_024302275.1:n.*820C>T
XM_024446508.1:c.*820C>T (C1orf167)	XP_024302276.1:n.*820C>T
XM_024446509.1:c.*820C>T (C1orf167)	XP_024302277.1:n.*820C>T
XM_024446512.1:c.*820C>T (C1orf167)	XP_024302280.1:n.*820C>T
XM_024446514.1:c.*820C>T (C1orf167)	XP_024302282.1:n.*820C>T
XM_024446515.1:c.*820C>T (C1orf167)	XP_024302283.1:n.*820C>T
XM_024446517.1:c.*820C>T (C1orf167)	XP_024302285.1:n.*820C>T
XM_024446518.1:c.*820C>T (C1orf167)	XP_024302286.1:n.*820C>T
NM_005957.5:c.*817G>A (MTHFR) MANE Select	NP_005948.3:n.*817G>A
NM_001330358.2:c.*817G>A (MTHFR)	NP_001317287.1:n.*817G>A