Canonical Allele Identifier: CA195349779
Gene: FRMD3 HGNC NCBI

Linked Data

dbSNP Id: rs574632838
gnomAD v3: 9-83549164-C-G
gnomAD v4: 9-83549164-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.83549164C>G , CM000671.2:g.83549164C>G GRCh38
NC_000009.11:g.86164079C>G , CM000671.1:g.86164079C>G GRCh37
NC_000009.10:g.85353899C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017014588.1:c.24+11006G>C XP_016870077.1:n.24+11006G>C
XM_024447487.1:c.-142+25746G>C XP_024303255.1:n.-142+25746G>C
XM_024447489.1:c.-142+25746G>C XP_024303257.1:n.-142+25746G>C