LDH info

Canonical Allele Identifier: CA10607809
Gene: C1orf167 HGNC NCBI
MTHFR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 292158
ClinVar RCV Id: RCV000301152
dbSNP Id: rs4846048

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11786195G>A , CM000663.2:g.11786195G>A GRCh38
NC_000001.10:g.11846252G>A , CM000663.1:g.11846252G>A GRCh37
NC_000001.9:g.11768839G>A NCBI36
NG_013351.1:g.24909C>T , LRG_726:g.24909C>T

Transcript Alleles

HGVS Amino-acid change
NM_001010881.1:c.3567+906G>A (C1orf167) VV NP_001010881.1:p.=
NM_005957.4:c.*4485C>T , LRG_726t1:c.*4485C>T (MTHFR) NP_005948.3:p.=
XM_006711078.2:c.3567+906G>A (C1orf167) XP_006711141.1:p.=
XM_011541267.1:c.3702+906G>A (C1orf167) XP_011539569.1:p.=
XM_011541268.1:c.3702+906G>A (C1orf167) XP_011539570.1:p.=
XM_011541269.1:c.3702+906G>A (C1orf167) XP_011539571.1:p.=
XM_011541270.1:c.3702+906G>A (C1orf167) XP_011539572.1:p.=
XM_011541271.1:c.3648+906G>A (C1orf167) XP_011539573.1:p.=
XM_011541272.1:c.3702+906G>A (C1orf167) XP_011539574.1:p.=
XM_011541273.1:c.3567+906G>A (C1orf167) XP_011539575.1:p.=
XM_011541274.1:c.3567+906G>A (C1orf167) XP_011539576.1:p.=
XM_011541275.1:c.3567+906G>A (C1orf167) XP_011539577.1:p.=
XM_011541276.1:c.3702+906G>A (C1orf167) XP_011539578.1:p.=
XM_011541277.1:c.3702+906G>A (C1orf167) XP_011539579.1:p.=
XM_011541278.1:c.3702+906G>A (C1orf167) XP_011539580.1:p.=
XM_011541279.1:c.3294+906G>A (C1orf167) XP_011539581.1:p.=
XM_011541280.1:c.1983+906G>A (C1orf167) XP_011539582.1:p.=
XM_011541281.1:c.1983+906G>A (C1orf167) XP_011539583.1:p.=
NM_001330358.1:c.*4485C>T (MTHFR) VV NP_001317287.1:p.=
XM_011541272.3:c.3702+906G>A (C1orf167) XP_011539574.1:p.=
XM_011541276.3:c.3702+906G>A (C1orf167) XP_011539578.1:p.=
XM_011541277.3:c.3702+906G>A (C1orf167) XP_011539579.1:p.=
XM_011541278.2:c.3702+906G>A (C1orf167) XP_011539580.1:p.=
XM_024446506.1:c.3702+906G>A (C1orf167) XP_024302274.1:p.=
XM_024446507.1:c.3702+906G>A (C1orf167) XP_024302275.1:p.=
XM_024446508.1:c.3702+906G>A (C1orf167) XP_024302276.1:p.=
XM_024446509.1:c.3702+906G>A (C1orf167) XP_024302277.1:p.=
XM_024446512.1:c.3648+906G>A (C1orf167) XP_024302280.1:p.=
XM_024446514.1:c.3567+906G>A (C1orf167) XP_024302282.1:p.=
XM_024446515.1:c.3567+906G>A (C1orf167) XP_024302283.1:p.=
XM_024446517.1:c.3567+906G>A (C1orf167) XP_024302285.1:p.=
XM_024446518.1:c.1983+906G>A (C1orf167) XP_024302286.1:p.=
ENST00000312793.9:n.1717+906G>A
ENST00000376583.7:n.6579C>T ENSP00000365767.3:p.=
ENST00000376592.5:c.*4485C>T ENSP00000365777.1:p.=
ENST00000433342.5:n.3639+906G>A ENSP00000414909.2:p.=
ENST00000444493.5:n.1066+906G>A
ENST00000449278.1:n.896+906G>A
ENST00000475041.1:n.119+906G>A