Canonical Allele Identifier: CA13586930
Gene: PDZRN4 HGNC NCBI
COSMIC:
COSN17966320 (not active)
MyVariant.info:
GRCh38 chr12:g.41572059A>C
GRCh37 chr12:g.41965861A>C
gnomAD v2:
12:41965861 A / C
gnomAD v3:
12:41572059 A / C
gnomAD v4:
chr12-41572059-A-C
Joint Max Group AF 0.81789883 (EAS)
Genomes Max Group AF 0.81789883 (EAS)
dbSNP:
1458175
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.41572059A>C , CM000674.2:g.41572059A>C GRCh38
NC_000012.11:g.41965861A>C , CM000674.1:g.41965861A>C GRCh37
NC_000012.10:g.40252128A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000402685.7:c.1585-305A>C MANE Select ENSP00000384197.2:n.1585-305A>C
ENST00000649474.1:c.619-305A>C ENSP00000497437.1:n.619-305A>C
ENST00000298919.7:c.805-305A>C ENSP00000298919.7:n.805-305A>C
ENST00000402685.6:c.1585-305A>C ENSP00000384197.2:n.1585-305A>C
ENST00000539469.6:c.811-305A>C ENSP00000439990.2:n.811-305A>C
ENST00000548316.1:n.745-305A>C
NM_001164595.1:c.1585-305A>C NP_001158067.1:n.1585-305A>C
NM_013377.3:c.811-305A>C NP_037509.3:n.811-305A>C
XR_944528.1:n.2191-305A>C
NM_001164595.2:c.1585-305A>C MANE Select NP_001158067.1:n.1585-305A>C
NM_013377.4:c.811-305A>C NP_037509.3:n.811-305A>C
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