Canonical Allele Identifier: CA1126139498
Gene: FRMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1830098319
gnomAD v3: 9-83549285-T-A
gnomAD v4: 9-83549285-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.83549285T>A , CM000671.2:g.83549285T>A GRCh38
NC_000009.11:g.86164200T>A , CM000671.1:g.86164200T>A GRCh37
NC_000009.10:g.85354020T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017014588.1:c.24+10885A>T XP_016870077.1:n.24+10885A>T
XM_024447487.1:c.-142+25625A>T XP_024303255.1:n.-142+25625A>T
XM_024447489.1:c.-142+25625A>T XP_024303257.1:n.-142+25625A>T