Canonical Allele Identifier: CA11945529
Gene: CD14 HGNC NCBI
TMCO6 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.140631730C>A
GRCh37 chr5:g.140011315C>A
gnomAD v2:
5:140011315 C / A
gnomAD v3:
5:140631730 C / A
gnomAD v4:
chr5-140631730-C-A
Joint Max Group AF 0.28095983 (MID)
Genomes Max Group AF 0.27824919 (NFE)
Exomes Max Group AF 0.28362284 (MID)
dbSNP:
2563298
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140631730C>A , CM000667.2:g.140631730C>A GRCh38
NC_000005.9:g.140011315C>A , CM000667.1:g.140011315C>A GRCh37
NC_000005.8:g.139991499C>A NCBI36
NG_023178.1:g.6972G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000498971.7:c.*126G>T (CD14) ENSP00000426543.2:n.*126G>T
ENST00000512545.2:c.*126G>T (CD14) ENSP00000425447.2:n.*126G>T
ENST00000519715.2:c.*126G>T (CD14) ENSP00000430884.2:n.*126G>T
ENST00000302014.10:c.*126G>T (CD14) ENSP00000304236.6:n.*126G>T
ENST00000401743.6:c.*126G>T (CD14) ENSP00000385519.2:n.*126G>T
NM_000591.3:c.*126G>T (CD14) NP_000582.1:n.*126G>T
NM_001040021.2:c.*126G>T (CD14) NP_001035110.1:n.*126G>T
NM_001174104.1:c.*126G>T (CD14) NP_001167575.1:n.*126G>T
NM_001174105.1:c.*126G>T (CD14) NP_001167576.1:n.*126G>T
XM_011537665.1:c.-129-9935C>A (TMCO6) XP_011535967.1:n.-129-9935C>A
XM_011537665.2:c.-129-9935C>A (TMCO6) XP_011535967.1:n.-129-9935C>A
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