Canonical Allele Identifier: CA1126139462
Gene: FRMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1830096685
gnomAD v3: 9-83549144-C-T
gnomAD v4: 9-83549144-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.83549144C>T , CM000671.2:g.83549144C>T GRCh38
NC_000009.11:g.86164059C>T , CM000671.1:g.86164059C>T GRCh37
NC_000009.10:g.85353879C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017014588.1:c.24+11026G>A XP_016870077.1:n.24+11026G>A
XM_024447487.1:c.-142+25766G>A XP_024303255.1:n.-142+25766G>A
XM_024447489.1:c.-142+25766G>A XP_024303257.1:n.-142+25766G>A