Canonical Allele Identifier: CA195349758
Gene: FRMD3 HGNC NCBI

Linked Data

dbSNP Id: rs190204368
gnomAD v3: 9-83549099-C-T
gnomAD v4: 9-83549099-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.83549099C>T , CM000671.2:g.83549099C>T GRCh38
NC_000009.11:g.86164014C>T , CM000671.1:g.86164014C>T GRCh37
NC_000009.10:g.85353834C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017014588.1:c.24+11071G>A XP_016870077.1:n.24+11071G>A
XM_024447487.1:c.-142+25811G>A XP_024303255.1:n.-142+25811G>A
XM_024447489.1:c.-142+25811G>A XP_024303257.1:n.-142+25811G>A