Canonical Allele Identifier: CA12423047
Gene: FKBP5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35580459G>A
GRCh37 chr6:g.35548236G>A
gnomAD v2:
6:35548236 G / A
gnomAD v3:
6:35580459 G / A
gnomAD v4:
chr6-35580459-G-A
Joint Max Group AF 0.61868686 (EAS)
Genomes Max Group AF 0.59881976 (EAS)
Exomes Max Group AF 0.62028542 (EAS)
dbSNP:
7757037
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35580459G>A , CM000668.2:g.35580459G>A GRCh38
NC_000006.11:g.35548236G>A , CM000668.1:g.35548236G>A GRCh37
NC_000006.10:g.35656214G>A NCBI36
NG_012645.2:g.153125C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357266.9:c.841-238C>T MANE Select ENSP00000349811.3:n.841-238C>T
ENST00000357266.8:c.841-238C>T ENSP00000349811.3:n.841-238C>T
ENST00000536438.5:c.841-238C>T ENSP00000444810.1:n.841-238C>T
ENST00000539068.5:c.841-238C>T ENSP00000441205.1:n.841-238C>T
NM_001145775.2:c.841-238C>T NP_001139247.1:n.841-238C>T
NM_001145776.1:c.841-238C>T NP_001139248.1:n.841-238C>T
NM_004117.3:c.841-238C>T NP_004108.1:n.841-238C>T
XR_242006.2:n.433-12571G>A
XR_242006.3:n.462-12571G>A
NM_001145775.3:c.841-238C>T NP_001139247.1:n.841-238C>T
NM_001145776.2:c.841-238C>T NP_001139248.1:n.841-238C>T
NM_004117.4:c.841-238C>T MANE Select NP_004108.1:n.841-238C>T
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