Canonical Allele Identifier: CA588976972
Gene: FRMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1456087244
gnomAD v2: 9-86164052-T-C
gnomAD v3: 9-83549137-T-C
gnomAD v4: 9-83549137-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.83549137T>C , CM000671.2:g.83549137T>C GRCh38
NC_000009.11:g.86164052T>C , CM000671.1:g.86164052T>C GRCh37
NC_000009.10:g.85353872T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017014588.1:c.24+11033A>G XP_016870077.1:n.24+11033A>G
XM_024447487.1:c.-142+25773A>G XP_024303255.1:n.-142+25773A>G
XM_024447489.1:c.-142+25773A>G XP_024303257.1:n.-142+25773A>G