Canonical Allele Identifier: CA588976971
Gene: FRMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1348982720
gnomAD v2: 9-86164034-A-G
gnomAD v3: 9-83549119-A-G
gnomAD v4: 9-83549119-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.83549119A>G , CM000671.2:g.83549119A>G GRCh38
NC_000009.11:g.86164034A>G , CM000671.1:g.86164034A>G GRCh37
NC_000009.10:g.85353854A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017014588.1:c.24+11051T>C XP_016870077.1:n.24+11051T>C
XM_024447487.1:c.-142+25791T>C XP_024303255.1:n.-142+25791T>C
XM_024447489.1:c.-142+25791T>C XP_024303257.1:n.-142+25791T>C