Canonical Allele Identifier: CA5415013
Gene: FRMD4A HGNC NCBI
MIR1265 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.14436619T>C
GRCh37 chr10:g.14478618T>C
gnomAD v2:
10:14478618 T / C
gnomAD v3:
10:14436619 T / C
gnomAD v4:
chr10-14436619-T-C
Joint Max Group AF 0.248429 (AFR)
Genomes Max Group AF 0.24784039 (AFR)
Exomes Max Group AF 0.244608 (AFR)
dbSNP:
11259096
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.14436619T>C , CM000672.2:g.14436619T>C GRCh38
NC_000010.10:g.14478618T>C , CM000672.1:g.14478618T>C GRCh37
NC_000010.9:g.14518624T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000475141.2:c.-305+25449A>G (FRMD4A) ENSP00000473870.1:n.-305+25449A>G
ENST00000493380.5:c.-82+25449A>G (FRMD4A) ENSP00000474863.1:n.-82+25449A>G
NR_031668.1:n.44T>C (MIR1265)
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