Canonical Allele Identifier: CA17998533
Gene: MTHFR HGNC NCBI
C1orf167 HGNC NCBI

Linked Data

dbSNP Id: rs373252979
gnomAD v2: 1-11849835-G-A
gnomAD v3: 1-11789778-G-A
gnomAD v4: 1-11789778-G-A
MyVariant Identifiers: chr1:g.11849835G>A (hg19) chr1:g.11789778G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11789778G>A , CM000663.2:g.11789778G>A GRCh38
NC_000001.10:g.11849835G>A , CM000663.1:g.11849835G>A GRCh37
NC_000001.9:g.11772422G>A NCBI36
NG_013351.1:g.21326C>T , LRG_726:g.21326C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.*902C>T (MTHFR) ENSP00000365770.1:n.*902C>T
ENST00000376590.9:c.*902C>T (MTHFR) MANE Select ENSP00000365775.3:n.*902C>T
ENST00000376592.6:c.*902C>T (MTHFR) ENSP00000365777.1:n.*902C>T
ENST00000641747.1:c.*2385C>T (MTHFR) ENSP00000493116.1:n.*2385C>T
ENST00000376583.7:c.2996C>T (MTHFR) ENSP00000365767.3:n.2996C>T
ENST00000376585.5:c.*902C>T (MTHFR) ENSP00000365770.1:n.*902C>T
ENST00000376590.7:c.*902C>T (MTHFR) ENSP00000365775.3:n.*902C>T
ENST00000376592.5:c.*902C>T (MTHFR) ENSP00000365777.1:n.*902C>T
NM_005957.4:c.*902C>T , LRG_726t1:c.*902C>T (MTHFR) NP_005948.3:n.*902C>T
NM_001330358.1:c.*902C>T (MTHFR) NP_001317287.1:n.*902C>T
XM_011541272.3:c.*332G>A (C1orf167) XP_011539574.1:n.*332G>A
XM_011541276.3:c.*319G>A (C1orf167) XP_011539578.1:n.*319G>A
XM_011541277.3:c.*332G>A (C1orf167) XP_011539579.1:n.*332G>A
XM_024446506.1:c.*735G>A (C1orf167) XP_024302274.1:n.*735G>A
XM_024446507.1:c.*735G>A (C1orf167) XP_024302275.1:n.*735G>A
XM_024446508.1:c.*735G>A (C1orf167) XP_024302276.1:n.*735G>A
XM_024446509.1:c.*735G>A (C1orf167) XP_024302277.1:n.*735G>A
XM_024446512.1:c.*735G>A (C1orf167) XP_024302280.1:n.*735G>A
XM_024446514.1:c.*735G>A (C1orf167) XP_024302282.1:n.*735G>A
XM_024446515.1:c.*735G>A (C1orf167) XP_024302283.1:n.*735G>A
XM_024446517.1:c.*735G>A (C1orf167) XP_024302285.1:n.*735G>A
XM_024446518.1:c.*735G>A (C1orf167) XP_024302286.1:n.*735G>A
NM_005957.5:c.*902C>T (MTHFR) MANE Select NP_005948.3:n.*902C>T
NM_001330358.2:c.*902C>T (MTHFR) NP_001317287.1:n.*902C>T
Search 100 bp 5'
Search 100 bp 3'