Canonical Allele Identifier: CA10629428
Gene: POR HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.75915137A>C
GRCh37 chr7:g.75544455A>C
gnomAD v2:
7:75544455 A / C
gnomAD v3:
7:75915137 A / C
gnomAD v4:
chr7-75915137-A-C
Joint Max Group AF 0.8273653 (AFR)
Genomes Max Group AF 0.82742602 (AFR)
Exomes Max Group AF 0.60154579 (AFR)
ClinVar RCV:
RCV000379412
RCV001643092
ClinVar Variation:
360686
dbSNP:
3823884
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75915137A>C , CM000669.2:g.75915137A>C GRCh38
NC_000007.13:g.75544455A>C , CM000669.1:g.75544455A>C GRCh37
NC_000007.12:g.75382391A>C NCBI36
NG_008930.1:g.5036A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706544.1:c.-47A>C ENSP00000516442.1:n.-47A>C
ENST00000439963.5:c.-5+7506A>C ENSP00000390540.1:n.-5+7506A>C
ENST00000453773.5:c.-5+15865A>C ENSP00000395813.1:n.-5+15865A>C
ENST00000461988.5:c.-47A>C ENSP00000419970.1:n.-47A>C
NM_000941.2:c.-47A>C NP_000932.3:n.-47A>C
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