Canonical Allele Identifier: CA130628
Gene: FKBP10 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.41820412C>T
GRCh37 chr17:g.39976664C>T
gnomAD v3:
17:41820412 C / T
gnomAD v4:
chr17-41820412-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar Allele:
48441
ClinVar RCV:
RCV000033069
ClinVar Variation:
39842
dbSNP:
372896892
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41820412C>T , CM000679.2:g.41820412C>T GRCh38
NC_000017.10:g.39976664C>T , CM000679.1:g.39976664C>T GRCh37
NC_000017.9:g.37230190C>T NCBI36
NG_015860.1:g.12703C>T , LRG_12:g.12703C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706683.1:c.871C>T ENSP00000516497.1:p.Arg291Ter
ENST00000321562.9:c.1207C>T MANE Select ENSP00000317232.4:p.Arg403Ter
ENST00000321562.8:c.1207C>T ENSP00000317232.4:p.Arg403Ter
ENST00000455106.1:c.618C>T
ENST00000489591.5:c.*991C>T ENSP00000466352.1:n.*991C>T
ENST00000490938.5:n.410C>T
NM_021939.3:c.1207C>T , LRG_12t1:c.1207C>T NP_068758.3:p.Arg403Ter
XM_011525099.1:c.1207C>T XP_011523401.1:p.Arg403Ter
XM_011525100.1:c.934C>T XP_011523402.1:p.Arg312Ter
XM_011525099.3:c.1207C>T XP_011523401.1:p.Arg403Ter
XM_011525100.2:c.934C>T XP_011523402.1:p.Arg312Ter
NM_021939.4:c.1207C>T MANE Select NP_068758.3:p.Arg403Ter
Search 100 bp 5'
Search 100 bp 3'