Canonical Allele Identifier: CA4958750

Gene: DOCK8

Linked Data

• dbSNP Id: rs745708436
• ExAC: 9:414819 C / T
• gnomAD v2: 9-414819-C-T
• gnomAD v3: 9-414819-C-T
• gnomAD v4: 9-414819-C-T
• MyVariant Identifiers: chr9:g.414819C>T (hg19) ; chr9:g.414819C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414819C>T , CM000671.2:g.414819C>T	GRCh38
NC_000009.11:g.414819C>T , CM000671.1:g.414819C>T	GRCh37
NC_000009.10:g.404819C>T	NCBI36
NG_017007.1:g.204955C>T , LRG_196:g.204955C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3268C>T	ENSP00000371766.2:p.His1090Tyr
ENST00000683406.1:n.89C>T
ENST00000685949.1:n.2356C>T
ENST00000432829.7:c.3568C>T MANE Select	ENSP00000394888.3:p.His1190Tyr
ENST00000382329.1:c.1969C>T	ENSP00000371766.1:p.His657Tyr
ENST00000432829.6:c.3568C>T	ENSP00000394888.3:p.His1190Tyr
ENST00000453981.5:c.3364C>T	ENSP00000408464.2:p.His1122Tyr
ENST00000469391.5:c.3268C>T	ENSP00000419438.1:p.His1090Tyr
ENST00000495184.5:n.5523C>T
NM_001190458.1:c.3268C>T	NP_001177387.1:p.His1090Tyr
NM_001193536.1:c.3364C>T	NP_001180465.1:p.His1122Tyr
NM_203447.3:c.3568C>T , LRG_196t1:c.3568C>T	NP_982272.2:p.His1190Tyr
XM_011518045.1:c.3268C>T	XP_011516347.1:p.His1090Tyr
XM_011518046.1:c.3430C>T	XP_011516348.1:p.His1144Tyr
XM_011518047.1:c.3364C>T	XP_011516349.1:p.His1122Tyr
XM_011518048.1:c.3364C>T	XP_011516350.1:p.His1122Tyr
XM_011518049.1:c.1804C>T	XP_011516351.1:p.His602Tyr
XM_011518045.3:c.3268C>T	XP_011516347.1:p.His1090Tyr
XM_011518046.2:c.3430C>T	XP_011516348.1:p.His1144Tyr
XM_011518047.3:c.3364C>T	XP_011516349.1:p.His1122Tyr
XM_011518048.2:c.3364C>T	XP_011516350.1:p.His1122Tyr
XM_011518049.2:c.1804C>T	XP_011516351.1:p.His602Tyr
XM_017015173.1:c.3364C>T	XP_016870662.1:p.His1122Tyr
XM_017015174.1:c.3430C>T	XP_016870663.1:p.His1144Tyr
NM_001190458.2:c.3268C>T	NP_001177387.1:p.His1090Tyr
NM_001193536.2:c.3364C>T	NP_001180465.1:p.His1122Tyr
NM_203447.4:c.3568C>T MANE Select	NP_982272.2:p.His1190Tyr