Canonical Allele Identifier: CA10823495
Gene: PROX1 HGNC NCBI
PROX1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.213985913T>C
GRCh37 chr1:g.214159256T>C
gnomAD v2:
1:214159256 T / C
gnomAD v3:
1:213985913 T / C
gnomAD v4:
chr1-213985913-T-C
Joint Max Group AF 0.53894933 (NFE)
Genomes Max Group AF 0.53897768 (NFE)
Exomes Max Group AF 0.25704126 (NFE)
dbSNP:
340874
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.213985913T>C , CM000663.2:g.213985913T>C GRCh38
NC_000001.10:g.214159256T>C , CM000663.1:g.214159256T>C GRCh37
NC_000001.9:g.212225879T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000471129.1:c.-68+2590T>C (PROX1) ENSP00000419517.1:n.-68+2590T>C
NR_037850.2:n.85+156A>G (PROX1-AS1)
XM_011509773.1:c.-68+2590T>C (PROX1) XP_011508075.1:n.-68+2590T>C
XM_011509773.2:c.-68+2590T>C (PROX1) XP_011508075.1:n.-68+2590T>C
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