Canonical Allele Identifier: CA372761981

Gene: DOCK8

Linked Data

• gnomAD v4: 9-418080-G-T
• MyVariant Identifiers: chr9:g.418080G>T (hg19) ; chr9:g.418080G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.418080G>T , CM000671.2:g.418080G>T	GRCh38
NC_000009.11:g.418080G>T , CM000671.1:g.418080G>T	GRCh37
NC_000009.10:g.408080G>T	NCBI36
NG_017007.1:g.208216G>T , LRG_196:g.208216G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.3413G>T	ENSP00000371766.2:p.Arg1138Leu
ENST00000683406.1:n.234G>T
ENST00000685949.1:n.2501G>T
ENST00000432829.7:c.3713G>T MANE Select	ENSP00000394888.3:p.Arg1238Leu
ENST00000382329.1:c.2114G>T	ENSP00000371766.1:p.Arg705Leu
ENST00000432829.6:c.3713G>T	ENSP00000394888.3:p.Arg1238Leu
ENST00000453981.5:c.3509G>T	ENSP00000408464.2:p.Arg1170Leu
ENST00000469391.5:c.3413G>T	ENSP00000419438.1:p.Arg1138Leu
ENST00000495184.5:n.5668G>T
NM_001190458.1:c.3413G>T	NP_001177387.1:p.Arg1138Leu
NM_001193536.1:c.3509G>T	NP_001180465.1:p.Arg1170Leu
NM_203447.3:c.3713G>T , LRG_196t1:c.3713G>T	NP_982272.2:p.Arg1238Leu
XM_011518045.1:c.3413G>T	XP_011516347.1:p.Arg1138Leu
XM_011518046.1:c.3575G>T	XP_011516348.1:p.Arg1192Leu
XM_011518047.1:c.3509G>T	XP_011516349.1:p.Arg1170Leu
XM_011518048.1:c.3509G>T	XP_011516350.1:p.Arg1170Leu
XM_011518049.1:c.1949G>T	XP_011516351.1:p.Arg650Leu
XM_011518045.3:c.3413G>T	XP_011516347.1:p.Arg1138Leu
XM_011518046.2:c.3575G>T	XP_011516348.1:p.Arg1192Leu
XM_011518047.3:c.3509G>T	XP_011516349.1:p.Arg1170Leu
XM_011518048.2:c.3509G>T	XP_011516350.1:p.Arg1170Leu
XM_011518049.2:c.1949G>T	XP_011516351.1:p.Arg650Leu
XM_017015173.1:c.3509G>T	XP_016870662.1:p.Arg1170Leu
XM_017015174.1:c.3575G>T	XP_016870663.1:p.Arg1192Leu
NM_001190458.2:c.3413G>T	NP_001177387.1:p.Arg1138Leu
NM_001193536.2:c.3509G>T	NP_001180465.1:p.Arg1170Leu
NM_203447.4:c.3713G>T MANE Select	NP_982272.2:p.Arg1238Leu