Canonical Allele Identifier: CA241786

Gene: FKBP10

Linked Data

• ClinVar Variation Id: 195370
• ClinVar RCV Id: RCV000175935 ; RCV000329828
• dbSNP Id: rs140027863
• ExAC: 17:39973305 C / G
• gnomAD v2: 17-39973305-C-G
• gnomAD v3: 17-41817053-C-G
• gnomAD v4: 17-41817053-C-G
• MyVariant Identifiers: chr17:g.39973305C>G (hg19) ; chr17:g.41817053C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41817053C>G , CM000679.2:g.41817053C>G	GRCh38
NC_000017.10:g.39973305C>G , CM000679.1:g.39973305C>G	GRCh37
NC_000017.9:g.37226831C>G	NCBI36
NG_015860.1:g.9344C>G , LRG_12:g.9344C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706683.1:c.246-5C>G	ENSP00000516497.1:n.246-5C>G
ENST00000321562.9:c.246-5C>G MANE Select	ENSP00000317232.4:n.246-5C>G
ENST00000321562.8:c.246-5C>G	ENSP00000317232.4:n.246-5C>G
ENST00000429461.5:c.66-5C>G	ENSP00000408232.1:n.66-5C>G
ENST00000489591.5:c.246-1036C>G	ENSP00000466352.1:n.246-1036C>G
ENST00000585664.5:c.66-5C>G	ENSP00000468703.1:n.66-5C>G
ENST00000585922.5:c.246-5C>G	ENSP00000466097.1:n.246-5C>G
NM_021939.3:c.246-5C>G , LRG_12t1:c.246-5C>G	NP_068758.3:n.246-5C>G
XM_011525099.1:c.246-5C>G	XP_011523401.1:n.246-5C>G
XM_011525100.1:c.119-1036C>G	XP_011523402.1:n.119-1036C>G
XM_011525099.3:c.246-5C>G	XP_011523401.1:n.246-5C>G
XM_011525100.2:c.119-1036C>G	XP_011523402.1:n.119-1036C>G
NM_021939.4:c.246-5C>G MANE Select	NP_068758.3:n.246-5C>G