Canonical Allele Identifier: CA886038330

Gene: MTHFR C1orf167

Linked Data

• dbSNP Id: rs1295318316
• MyVariant Identifiers: chr1:g.11849850_11849851insGAT (hg19) ; chr1:g.11789793_11789794insGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11789794_11789796dup , CM000663.2:g.11789794_11789796dup	GRCh38
NC_000001.10:g.11849851_11849853dup , CM000663.1:g.11849851_11849853dup	GRCh37
NC_000001.9:g.11772438_11772440dup	NCBI36
NG_013351.1:g.21308_21310dup , LRG_726:g.21308_21310dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*884_*886dup (MTHFR)	ENSP00000365770.1:n.*884_*886dup
ENST00000376590.9:c.*884_*886dup (MTHFR) MANE Select	ENSP00000365775.3:n.*884_*886dup
ENST00000376592.6:c.*884_*886dup (MTHFR)	ENSP00000365777.1:n.*884_*886dup
ENST00000641747.1:c.*2367_*2369dup (MTHFR)	ENSP00000493116.1:n.*2367_*2369dup
ENST00000376583.7:c.2978_2980dup (MTHFR)	ENSP00000365767.3:n.2978_2980dup
ENST00000376585.5:c.*884_*886dup (MTHFR)	ENSP00000365770.1:n.*884_*886dup
ENST00000376590.7:c.*884_*886dup (MTHFR)	ENSP00000365775.3:n.*884_*886dup
ENST00000376592.5:c.*884_*886dup (MTHFR)	ENSP00000365777.1:n.*884_*886dup
NM_005957.4:c.*884_*886dup , LRG_726t1:c.*884_*886dup (MTHFR)	NP_005948.3:n.*884_*886dup
NM_001330358.1:c.*884_*886dup (MTHFR)	NP_001317287.1:n.*884_*886dup
XM_011541272.3:c.*348_*350dup (C1orf167)	XP_011539574.1:n.*348_*350dup
XM_011541276.3:c.*335_*337dup (C1orf167)	XP_011539578.1:n.*335_*337dup
XM_011541277.3:c.*348_*350dup (C1orf167)	XP_011539579.1:n.*348_*350dup
XM_024446506.1:c.*751_*753dup (C1orf167)	XP_024302274.1:n.*751_*753dup
XM_024446507.1:c.*751_*753dup (C1orf167)	XP_024302275.1:n.*751_*753dup
XM_024446508.1:c.*751_*753dup (C1orf167)	XP_024302276.1:n.*751_*753dup
XM_024446509.1:c.*751_*753dup (C1orf167)	XP_024302277.1:n.*751_*753dup
XM_024446512.1:c.*751_*753dup (C1orf167)	XP_024302280.1:n.*751_*753dup
XM_024446514.1:c.*751_*753dup (C1orf167)	XP_024302282.1:n.*751_*753dup
XM_024446515.1:c.*751_*753dup (C1orf167)	XP_024302283.1:n.*751_*753dup
XM_024446517.1:c.*751_*753dup (C1orf167)	XP_024302285.1:n.*751_*753dup
XM_024446518.1:c.*751_*753dup (C1orf167)	XP_024302286.1:n.*751_*753dup
NM_005957.5:c.*884_*886dup (MTHFR) MANE Select	NP_005948.3:n.*884_*886dup
NM_001330358.2:c.*884_*886dup (MTHFR)	NP_001317287.1:n.*884_*886dup