Canonical Allele Identifier: CA160057219
Gene: FKBP6 HGNC NCBI

Linked Data

dbSNP Id: rs1036933448
gnomAD v3: 7-73332661-A-G
gnomAD v4: 7-73332661-A-G
MyVariant Identifiers: chr7:g.73332661A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73332661A>G , CM000669.2:g.73332661A>G GRCh38
NC_000007.13:g.72746664A>G , CM000669.1:g.72746664A>G GRCh37
NC_000007.12:g.72384600A>G NCBI36
NG_023242.2:g.9506A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252037.5:c.588+885A>G MANE Select ENSP00000252037.4:n.588+885A>G
ENST00000648538.1:c.573+885A>G ENSP00000497448.1:n.573+885A>G
ENST00000252037.4:c.588+885A>G ENSP00000252037.4:n.588+885A>G
ENST00000413573.6:c.498+885A>G ENSP00000394952.2:n.498+885A>G
ENST00000429879.5:c.573+900A>G ENSP00000403908.1:n.573+900A>G
ENST00000431982.6:c.573+885A>G ENSP00000416277.2:n.573+885A>G
ENST00000442793.5:c.453+2309A>G ENSP00000402360.1:n.453+2309A>G
ENST00000445032.5:c.*667+885A>G ENSP00000415891.1:n.*667+885A>G
NM_001135211.2:c.573+885A>G NP_001128683.1:n.573+885A>G
NM_001281304.1:c.498+885A>G NP_001268233.1:n.498+885A>G
NM_003602.4:c.588+885A>G NP_003593.3:n.588+885A>G
XM_005250643.3:c.468+2309A>G XP_005250700.1:n.468+2309A>G
XM_006716152.2:c.573+900A>G XP_006716215.1:n.573+900A>G
XM_006716153.1:c.453+2309A>G XP_006716216.1:n.453+2309A>G
XM_011516644.1:c.588+885A>G XP_011514946.1:n.588+885A>G
NM_001362789.1:c.453+2309A>G NP_001349718.1:n.453+2309A>G
XM_017012741.1:c.558+900A>G XP_016868230.1:n.558+900A>G
XM_017012742.1:c.573+885A>G XP_016868231.1:n.573+885A>G
NM_003602.5:c.588+885A>G MANE Select NP_003593.3:n.588+885A>G
NM_001135211.3:c.573+885A>G NP_001128683.1:n.573+885A>G
NM_001281304.2:c.498+885A>G NP_001268233.1:n.498+885A>G
NM_001362789.2:c.453+2309A>G NP_001349718.1:n.453+2309A>G