Canonical Allele Identifier: CA4958708
Gene: DOCK8 HGNC NCBI
ClinVar Variation:
gnomAD v2:
gnomAD v3:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.407058C>T , CM000671.2:g.407058C>T GRCh38
NC_000009.11:g.407058C>T , CM000671.1:g.407058C>T GRCh37
NC_000009.10:g.397058C>T NCBI36
NG_017007.1:g.197194C>T , LRG_196:g.197194C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.3219C>T ENSP00000371766.2:p.Ala1073=
ENST00000683406.1:n.40C>T
ENST00000685949.1:n.2307C>T
ENST00000432829.7:c.3519C>T MANE Select ENSP00000394888.3:p.Ala1173=
ENST00000382329.1:c.1920C>T ENSP00000371766.1:p.Ala640=
ENST00000432829.6:c.3519C>T ENSP00000394888.3:p.Ala1173=
ENST00000453981.5:c.3315C>T ENSP00000408464.2:p.Ala1105=
ENST00000469391.5:c.3219C>T ENSP00000419438.1:p.Ala1073=
ENST00000495184.5:n.5474C>T
NM_001190458.1:c.3219C>T NP_001177387.1:p.Ala1073=
NM_001193536.1:c.3315C>T NP_001180465.1:p.Ala1105=
NM_203447.3:c.3519C>T , LRG_196t1:c.3519C>T NP_982272.2:p.Ala1173=
XM_011518045.1:c.3219C>T XP_011516347.1:p.Ala1073=
XM_011518046.1:c.3381C>T XP_011516348.1:p.Ala1127=
XM_011518047.1:c.3315C>T XP_011516349.1:p.Ala1105=
XM_011518048.1:c.3315C>T XP_011516350.1:p.Ala1105=
XM_011518049.1:c.1755C>T XP_011516351.1:p.Ala585=
XM_011518045.3:c.3219C>T XP_011516347.1:p.Ala1073=
XM_011518046.2:c.3381C>T XP_011516348.1:p.Ala1127=
XM_011518047.3:c.3315C>T XP_011516349.1:p.Ala1105=
XM_011518048.2:c.3315C>T XP_011516350.1:p.Ala1105=
XM_011518049.2:c.1755C>T XP_011516351.1:p.Ala585=
XM_017015173.1:c.3315C>T XP_016870662.1:p.Ala1105=
XM_017015174.1:c.3381C>T XP_016870663.1:p.Ala1127=
NM_001190458.2:c.3219C>T NP_001177387.1:p.Ala1073=
NM_001193536.2:c.3315C>T NP_001180465.1:p.Ala1105=
NM_203447.4:c.3519C>T MANE Select NP_982272.2:p.Ala1173=