Canonical Allele Identifier: CA367116755

Gene: FKBP14 FKBP14-AS1

Linked Data

• ClinVar Variation Id: 1740760
• ClinVar RCV Id: RCV002328411
• gnomAD v4: 7-30019028-G-A
• MyVariant Identifiers: chr7:g.30058644G>A (hg19) ; chr7:g.30019028G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30019028G>A , CM000669.2:g.30019028G>A	GRCh38
NC_000007.13:g.30058644G>A , CM000669.1:g.30058644G>A	GRCh37
NC_000007.12:g.30025169G>A	NCBI36
NG_032173.1:g.12774C>T , LRG_454:g.12774C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222803.10:c.445C>T (FKBP14) MANE Select	ENSP00000222803.5:p.Leu149Phe
ENST00000222803.9:c.445C>T (FKBP14)	ENSP00000222803.5:p.Leu149Phe
ENST00000412494.1:c.448C>T (FKBP14)
ENST00000419018.1:c.*92C>T (FKBP14)	ENSP00000406270.1:n.*92C>T
NM_017946.3:c.445C>T , LRG_454t1:c.445C>T (FKBP14)	NP_060416.1:p.Leu149Phe
NR_046478.1:n.830C>T (FKBP14)
NR_046479.1:n.586C>T (FKBP14)
XR_927144.1:n.1570-6359G>A (FKBP14-AS1)
XR_927145.1:n.1139-6359G>A (FKBP14-AS1)
XR_927145.3:n.345-6359G>A (FKBP14-AS1)
NM_017946.4:c.445C>T (FKBP14) MANE Select	NP_060416.1:p.Leu149Phe
NR_046478.2:n.731C>T (FKBP14)
NR_046479.2:n.487C>T (FKBP14)