Canonical Allele Identifier: CA195349736
Gene: FRMD3 HGNC NCBI

Linked Data

dbSNP Id: rs185845309
gnomAD v2: 9-86163958-G-C
gnomAD v3: 9-83549043-G-C
gnomAD v4: 9-83549043-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.83549043G>C , CM000671.2:g.83549043G>C GRCh38
NC_000009.11:g.86163958G>C , CM000671.1:g.86163958G>C GRCh37
NC_000009.10:g.85353778G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017014588.1:c.24+11127C>G XP_016870077.1:n.24+11127C>G
XM_024447487.1:c.-142+25867C>G XP_024303255.1:n.-142+25867C>G
XM_024447489.1:c.-142+25867C>G XP_024303257.1:n.-142+25867C>G