Canonical Allele Identifier: CA521192303

Gene: MTHFR C1orf167

Linked Data

• dbSNP Id: rs1267021474
• gnomAD v2: 1-11849778-C-CCAT
• gnomAD v3: 1-11789721-C-CCAT
• gnomAD v4: 1-11789721-C-CCAT
• MyVariant Identifiers: chr1:g.11849778_11849779insCAT (hg19) ; chr1:g.11789721_11789722insCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11789723_11789725dup , CM000663.2:g.11789723_11789725dup	GRCh38
NC_000001.10:g.11849780_11849782dup , CM000663.1:g.11849780_11849782dup	GRCh37
NC_000001.9:g.11772367_11772369dup	NCBI36
NG_013351.1:g.21380_21382dup , LRG_726:g.21380_21382dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*956_*958dup (MTHFR)	ENSP00000365770.1:n.*956_*958dup
ENST00000376590.9:c.*956_*958dup (MTHFR) MANE Select	ENSP00000365775.3:n.*956_*958dup
ENST00000376592.6:c.*956_*958dup (MTHFR)	ENSP00000365777.1:n.*956_*958dup
ENST00000376583.7:c.3050_3052dup (MTHFR)	ENSP00000365767.3:n.3050_3052dup
ENST00000376585.5:c.*956_*958dup (MTHFR)	ENSP00000365770.1:n.*956_*958dup
ENST00000376590.7:c.*956_*958dup (MTHFR)	ENSP00000365775.3:n.*956_*958dup
ENST00000376592.5:c.*956_*958dup (MTHFR)	ENSP00000365777.1:n.*956_*958dup
NM_005957.4:c.*956_*958dup , LRG_726t1:c.*956_*958dup (MTHFR)	NP_005948.3:n.*956_*958dup
NM_001330358.1:c.*956_*958dup (MTHFR)	NP_001317287.1:n.*956_*958dup
XM_011541272.3:c.*277_*279dup (C1orf167)	XP_011539574.1:n.*277_*279dup
XM_011541276.3:c.*264_*266dup (C1orf167)	XP_011539578.1:n.*264_*266dup
XM_011541277.3:c.*277_*279dup (C1orf167)	XP_011539579.1:n.*277_*279dup
XM_024446506.1:c.*680_*682dup (C1orf167)	XP_024302274.1:n.*680_*682dup
XM_024446507.1:c.*680_*682dup (C1orf167)	XP_024302275.1:n.*680_*682dup
XM_024446508.1:c.*680_*682dup (C1orf167)	XP_024302276.1:n.*680_*682dup
XM_024446509.1:c.*680_*682dup (C1orf167)	XP_024302277.1:n.*680_*682dup
XM_024446512.1:c.*680_*682dup (C1orf167)	XP_024302280.1:n.*680_*682dup
XM_024446514.1:c.*680_*682dup (C1orf167)	XP_024302282.1:n.*680_*682dup
XM_024446515.1:c.*680_*682dup (C1orf167)	XP_024302283.1:n.*680_*682dup
XM_024446517.1:c.*680_*682dup (C1orf167)	XP_024302285.1:n.*680_*682dup
XM_024446518.1:c.*680_*682dup (C1orf167)	XP_024302286.1:n.*680_*682dup
NM_005957.5:c.*956_*958dup (MTHFR) MANE Select	NP_005948.3:n.*956_*958dup
NM_001330358.2:c.*956_*958dup (MTHFR)	NP_001317287.1:n.*956_*958dup