Canonical Allele Identifier: CA588976974
Gene: FRMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1434755721
gnomAD v2: 9-86164113-T-C
gnomAD v3: 9-83549198-T-C
gnomAD v4: 9-83549198-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.83549198T>C , CM000671.2:g.83549198T>C GRCh38
NC_000009.11:g.86164113T>C , CM000671.1:g.86164113T>C GRCh37
NC_000009.10:g.85353933T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017014588.1:c.24+10972A>G XP_016870077.1:n.24+10972A>G
XM_024447487.1:c.-142+25712A>G XP_024303255.1:n.-142+25712A>G
XM_024447489.1:c.-142+25712A>G XP_024303257.1:n.-142+25712A>G