Canonical Allele Identifier: CA247795

Gene: FKBP10

Linked Data

• ClinVar Variation Id: 198900
• ClinVar RCV Id: RCV000180361 ; RCV000303036 ; RCV000890998 ; RCV002277430 ; RCV003977482
• dbSNP Id: rs61749879
• ExAC: 17:39977249 T / C
• gnomAD v2: 17-39977249-T-C
• gnomAD v3: 17-41820997-T-C
• gnomAD v4: 17-41820997-T-C
• MyVariant Identifiers: chr17:g.39977249T>C (hg19) ; chr17:g.41820997T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41820997T>C , CM000679.2:g.41820997T>C	GRCh38
NC_000017.10:g.39977249T>C , CM000679.1:g.39977249T>C	GRCh37
NC_000017.9:g.37230775T>C	NCBI36
NG_015860.1:g.13288T>C , LRG_12:g.13288T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706683.1:c.971T>C	ENSP00000516497.1:p.Ile324Thr
ENST00000321562.9:c.1307T>C MANE Select	ENSP00000317232.4:p.Ile436Thr
ENST00000321562.8:c.1307T>C	ENSP00000317232.4:p.Ile436Thr
ENST00000455106.1:c.718T>C
ENST00000464180.1:n.555T>C
ENST00000489591.5:c.*1091T>C	ENSP00000466352.1:n.*1091T>C
ENST00000490938.5:n.510T>C
NM_021939.3:c.1307T>C , LRG_12t1:c.1307T>C	NP_068758.3:p.Ile436Thr
XM_011525099.1:c.1364T>C	XP_011523401.1:p.Ile455Thr
XM_011525100.1:c.1091T>C	XP_011523402.1:p.Ile364Thr
XM_011525099.3:c.1364T>C	XP_011523401.1:p.Ile455Thr
XM_011525100.2:c.1091T>C	XP_011523402.1:p.Ile364Thr
NM_021939.4:c.1307T>C MANE Select	NP_068758.3:p.Ile436Thr