Canonical Allele Identifier: CA521192339

Gene: MTHFR C1orf167

Linked Data

• dbSNP Id: rs1333454385
• gnomAD v2: 1-11850118-CAGAAT-C
• gnomAD v3: 1-11790061-CAGAAT-C
• gnomAD v4: 1-11790061-CAGAAT-C
• MyVariant Identifiers: chr1:g.11850119_11850123del (hg19) ; chr1:g.11790062_11790066del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790065_11790069del , CM000663.2:g.11790065_11790069del	GRCh38
NC_000001.10:g.11850122_11850126del , CM000663.1:g.11850122_11850126del	GRCh37
NC_000001.9:g.11772709_11772713del	NCBI36
NG_013351.1:g.21038_21042del , LRG_726:g.21038_21042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*614_*618del (MTHFR)	ENSP00000365770.1:n.*614_*618del
ENST00000376590.9:c.*614_*618del (MTHFR) MANE Select	ENSP00000365775.3:n.*614_*618del
ENST00000376592.6:c.*614_*618del (MTHFR)	ENSP00000365777.1:n.*614_*618del
ENST00000641747.1:c.*2097_*2101del (MTHFR)	ENSP00000493116.1:n.*2097_*2101del
ENST00000641805.1:n.2920_2924del (MTHFR)
ENST00000376583.7:c.2708_2712del (MTHFR)	ENSP00000365767.3:n.2708_2712del
ENST00000376585.5:c.*614_*618del (MTHFR)	ENSP00000365770.1:n.*614_*618del
ENST00000376590.7:c.*614_*618del (MTHFR)	ENSP00000365775.3:n.*614_*618del
ENST00000376592.5:c.*614_*618del (MTHFR)	ENSP00000365777.1:n.*614_*618del
NM_005957.4:c.*614_*618del , LRG_726t1:c.*614_*618del (MTHFR)	NP_005948.3:n.*614_*618del
XM_005263458.2:c.*614_*618del (MTHFR)	XP_005263515.1:n.*614_*618del
XM_005263460.3:c.*614_*618del (MTHFR)	XP_005263517.1:n.*614_*618del
XM_005263461.3:c.*614_*618del (MTHFR)	XP_005263518.1:n.*614_*618del
XM_005263462.3:c.*614_*618del (MTHFR)	XP_005263519.1:n.*614_*618del
XM_005263463.2:c.*614_*618del (MTHFR)	XP_005263520.1:n.*614_*618del
XM_011541495.1:c.*614_*618del (MTHFR)	XP_011539797.1:n.*614_*618del
XM_011541496.1:c.*474_*478del (MTHFR)	XP_011539798.1:n.*474_*478del
NM_001330358.1:c.*614_*618del (MTHFR)	NP_001317287.1:n.*614_*618del
XM_005263460.5:c.*614_*618del (MTHFR)	XP_005263517.1:n.*614_*618del
XM_005263462.4:c.*614_*618del (MTHFR)	XP_005263519.1:n.*614_*618del
XM_005263463.4:c.*614_*618del (MTHFR)	XP_005263520.1:n.*614_*618del
XM_011541272.3:c.*619_*623del (C1orf167)	XP_011539574.1:n.*619_*623del
XM_011541276.3:c.*606_*610del (C1orf167)	XP_011539578.1:n.*606_*610del
XM_011541277.3:c.*619_*623del (C1orf167)	XP_011539579.1:n.*619_*623del
XM_011541495.3:c.*614_*618del (MTHFR)	XP_011539797.1:n.*614_*618del
XM_011541496.3:c.*474_*478del (MTHFR)	XP_011539798.1:n.*474_*478del
XM_024446506.1:c.*1022_*1026del (C1orf167)	XP_024302274.1:n.*1022_*1026del
XM_024446507.1:c.*1022_*1026del (C1orf167)	XP_024302275.1:n.*1022_*1026del
XM_024446508.1:c.*1022_*1026del (C1orf167)	XP_024302276.1:n.*1022_*1026del
XM_024446509.1:c.*1022_*1026del (C1orf167)	XP_024302277.1:n.*1022_*1026del
XM_024446512.1:c.*1022_*1026del (C1orf167)	XP_024302280.1:n.*1022_*1026del
XM_024446514.1:c.*1022_*1026del (C1orf167)	XP_024302282.1:n.*1022_*1026del
XM_024446515.1:c.*1022_*1026del (C1orf167)	XP_024302283.1:n.*1022_*1026del
XM_024446517.1:c.*1022_*1026del (C1orf167)	XP_024302285.1:n.*1022_*1026del
XM_024446518.1:c.*1022_*1026del (C1orf167)	XP_024302286.1:n.*1022_*1026del
XM_024447198.1:c.*614_*618del (MTHFR)	XP_024302966.1:n.*614_*618del
NM_005957.5:c.*614_*618del (MTHFR) MANE Select	NP_005948.3:n.*614_*618del
NM_001330358.2:c.*614_*618del (MTHFR)	NP_001317287.1:n.*614_*618del