Canonical Allele Identifier: CA521192309

Gene: MTHFR C1orf167

Linked Data

• dbSNP Id: rs1472937760
• gnomAD v2: 1-11849853-T-C
• gnomAD v4: 1-11789796-T-C
• MyVariant Identifiers: chr1:g.11849853T>C (hg19) ; chr1:g.11789796T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11789796T>C , CM000663.2:g.11789796T>C	GRCh38
NC_000001.10:g.11849853T>C , CM000663.1:g.11849853T>C	GRCh37
NC_000001.9:g.11772440T>C	NCBI36
NG_013351.1:g.21308A>G , LRG_726:g.21308A>G

Transcript Alleles

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