Canonical Allele Identifier: CA4958303
Gene: DOCK8 HGNC NCBI

Linked Data

ClinVar Variation Id: 366927
dbSNP Id: rs116523732
gnomAD v2: 9-382646-C-T
gnomAD v3: 9-382646-C-T
gnomAD v4: 9-382646-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.382646C>T , CM000671.2:g.382646C>T GRCh38
NC_000009.11:g.382646C>T , CM000671.1:g.382646C>T GRCh37
NC_000009.10:g.372646C>T NCBI36
NG_017007.1:g.172782C>T , LRG_196:g.172782C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382329.2:c.2535C>T ENSP00000371766.2:p.Ser845=
ENST00000382331.6:n.1236C>T
ENST00000682260.1:n.2635C>T
ENST00000685949.1:n.1527C>T
ENST00000432829.7:c.2739C>T MANE Select ENSP00000394888.3:p.Ser913=
ENST00000382329.1:c.1140C>T ENSP00000371766.1:p.Ser380=
ENST00000382331.5:c.645C>T ENSP00000371768.1:p.Ser215=
ENST00000432829.6:c.2739C>T ENSP00000394888.3:p.Ser913=
ENST00000453981.5:c.2535C>T ENSP00000408464.2:p.Ser845=
ENST00000469391.5:c.2535C>T ENSP00000419438.1:p.Ser845=
ENST00000495184.5:n.4694C>T
NM_001190458.1:c.2535C>T NP_001177387.1:p.Ser845=
NM_001193536.1:c.2535C>T NP_001180465.1:p.Ser845=
NM_203447.3:c.2739C>T , LRG_196t1:c.2739C>T NP_982272.2:p.Ser913=
XM_011518045.1:c.2535C>T XP_011516347.1:p.Ser845=
XM_011518046.1:c.2601C>T XP_011516348.1:p.Ser867=
XM_011518047.1:c.2535C>T XP_011516349.1:p.Ser845=
XM_011518048.1:c.2535C>T XP_011516350.1:p.Ser845=
XM_011518049.1:c.975C>T XP_011516351.1:p.Ser325=
XM_011518045.3:c.2535C>T XP_011516347.1:p.Ser845=
XM_011518046.2:c.2601C>T XP_011516348.1:p.Ser867=
XM_011518047.3:c.2535C>T XP_011516349.1:p.Ser845=
XM_011518048.2:c.2535C>T XP_011516350.1:p.Ser845=
XM_011518049.2:c.975C>T XP_011516351.1:p.Ser325=
XM_017015173.1:c.2535C>T XP_016870662.1:p.Ser845=
XM_017015174.1:c.2601C>T XP_016870663.1:p.Ser867=
NM_001190458.2:c.2535C>T NP_001177387.1:p.Ser845=
NM_001193536.2:c.2535C>T NP_001180465.1:p.Ser845=
NM_203447.4:c.2739C>T MANE Select NP_982272.2:p.Ser913=