Canonical Allele Identifier: CA2643297955
Gene: MTHFR HGNC NCBI
C1orf167 HGNC NCBI

Linked Data

gnomAD v4: 1-11789784-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11789784A>G , CM000663.2:g.11789784A>G GRCh38
NC_000001.10:g.11849841A>G , CM000663.1:g.11849841A>G GRCh37
NC_000001.9:g.11772428A>G NCBI36
NG_013351.1:g.21320T>C , LRG_726:g.21320T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.*896T>C (MTHFR) ENSP00000365770.1:n.*896T>C
ENST00000376590.9:c.*896T>C (MTHFR) MANE Select ENSP00000365775.3:n.*896T>C
ENST00000376592.6:c.*896T>C (MTHFR) ENSP00000365777.1:n.*896T>C
ENST00000641747.1:c.*2379T>C (MTHFR) ENSP00000493116.1:n.*2379T>C
ENST00000376583.7:c.2990T>C (MTHFR) ENSP00000365767.3:n.2990T>C
ENST00000376585.5:c.*896T>C (MTHFR) ENSP00000365770.1:n.*896T>C
ENST00000376590.7:c.*896T>C (MTHFR) ENSP00000365775.3:n.*896T>C
ENST00000376592.5:c.*896T>C (MTHFR) ENSP00000365777.1:n.*896T>C
NM_005957.4:c.*896T>C , LRG_726t1:c.*896T>C (MTHFR) NP_005948.3:n.*896T>C
NM_001330358.1:c.*896T>C (MTHFR) NP_001317287.1:n.*896T>C
XM_011541272.3:c.*338A>G (C1orf167) XP_011539574.1:n.*338A>G
XM_011541276.3:c.*325A>G (C1orf167) XP_011539578.1:n.*325A>G
XM_011541277.3:c.*338A>G (C1orf167) XP_011539579.1:n.*338A>G
XM_024446506.1:c.*741A>G (C1orf167) XP_024302274.1:n.*741A>G
XM_024446507.1:c.*741A>G (C1orf167) XP_024302275.1:n.*741A>G
XM_024446508.1:c.*741A>G (C1orf167) XP_024302276.1:n.*741A>G
XM_024446509.1:c.*741A>G (C1orf167) XP_024302277.1:n.*741A>G
XM_024446512.1:c.*741A>G (C1orf167) XP_024302280.1:n.*741A>G
XM_024446514.1:c.*741A>G (C1orf167) XP_024302282.1:n.*741A>G
XM_024446515.1:c.*741A>G (C1orf167) XP_024302283.1:n.*741A>G
XM_024446517.1:c.*741A>G (C1orf167) XP_024302285.1:n.*741A>G
XM_024446518.1:c.*741A>G (C1orf167) XP_024302286.1:n.*741A>G
NM_005957.5:c.*896T>C (MTHFR) MANE Select NP_005948.3:n.*896T>C
NM_001330358.2:c.*896T>C (MTHFR) NP_001317287.1:n.*896T>C