Canonical Allele Identifier: CA4959348
Gene: DOCK8 HGNC NCBI
ClinVar Variation:
gnomAD v2:
gnomAD v3:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.439392A>G , CM000671.2:g.439392A>G GRCh38
NC_000009.11:g.439392A>G , CM000671.1:g.439392A>G GRCh37
NC_000009.10:g.429392A>G NCBI36
NG_017007.1:g.229528A>G , LRG_196:g.229528A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382329.2:c.4923+4A>G ENSP00000371766.2:n.4923+4A>G
ENST00000683406.1:n.1698+4A>G
ENST00000685949.1:n.4011+4A>G
ENST00000432829.7:c.5223+4A>G MANE Select ENSP00000394888.3:n.5223+4A>G
ENST00000382329.1:c.3624+4A>G ENSP00000371766.1:n.3624+4A>G
ENST00000432829.6:c.5223+4A>G ENSP00000394888.3:n.5223+4A>G
ENST00000453981.5:c.5019+4A>G ENSP00000408464.2:n.5019+4A>G
ENST00000469391.5:c.4923+4A>G ENSP00000419438.1:n.4923+4A>G
ENST00000495184.5:n.7178+4A>G
NM_001190458.1:c.4923+4A>G NP_001177387.1:n.4923+4A>G
NM_001193536.1:c.5019+4A>G NP_001180465.1:n.5019+4A>G
NM_203447.3:c.5223+4A>G , LRG_196t1:c.5223+4A>G NP_982272.2:n.5223+4A>G
XM_011518045.1:c.4923+4A>G XP_011516347.1:n.4923+4A>G
XM_011518046.1:c.5085+4A>G XP_011516348.1:n.5085+4A>G
XM_011518047.1:c.5019+4A>G XP_011516349.1:n.5019+4A>G
XM_011518048.1:c.5019+4A>G XP_011516350.1:n.5019+4A>G
XM_011518049.1:c.3459+4A>G XP_011516351.1:n.3459+4A>G
XM_011518045.3:c.4923+4A>G XP_011516347.1:n.4923+4A>G
XM_011518046.2:c.5085+4A>G XP_011516348.1:n.5085+4A>G
XM_011518047.3:c.5019+4A>G XP_011516349.1:n.5019+4A>G
XM_011518048.2:c.5019+4A>G XP_011516350.1:n.5019+4A>G
XM_011518049.2:c.3459+4A>G XP_011516351.1:n.3459+4A>G
XM_017015173.1:c.5019+4A>G XP_016870662.1:n.5019+4A>G
XM_017015174.1:c.5085+4A>G XP_016870663.1:n.5085+4A>G
NM_001190458.2:c.4923+4A>G NP_001177387.1:n.4923+4A>G
NM_001193536.2:c.5019+4A>G NP_001180465.1:n.5019+4A>G
NM_203447.4:c.5223+4A>G MANE Select NP_982272.2:n.5223+4A>G