Canonical Allele Identifier: CA372762073

Gene: DOCK8

Linked Data

• gnomAD v4: 9-418088-C-A
• MyVariant Identifiers: chr9:g.418088C>A (hg19) ; chr9:g.418088C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.418088C>A , CM000671.2:g.418088C>A	GRCh38
NC_000009.11:g.418088C>A , CM000671.1:g.418088C>A	GRCh37
NC_000009.10:g.408088C>A	NCBI36
NG_017007.1:g.208224C>A , LRG_196:g.208224C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382329.2:c.3421C>A	ENSP00000371766.2:p.Arg1141Ser
ENST00000683406.1:n.242C>A
ENST00000685949.1:n.2509C>A
ENST00000432829.7:c.3721C>A MANE Select	ENSP00000394888.3:p.Arg1241Ser
ENST00000382329.1:c.2122C>A	ENSP00000371766.1:p.Arg708Ser
ENST00000432829.6:c.3721C>A	ENSP00000394888.3:p.Arg1241Ser
ENST00000453981.5:c.3517C>A	ENSP00000408464.2:p.Arg1173Ser
ENST00000469391.5:c.3421C>A	ENSP00000419438.1:p.Arg1141Ser
ENST00000495184.5:n.5676C>A
NM_001190458.1:c.3421C>A	NP_001177387.1:p.Arg1141Ser
NM_001193536.1:c.3517C>A	NP_001180465.1:p.Arg1173Ser
NM_203447.3:c.3721C>A , LRG_196t1:c.3721C>A	NP_982272.2:p.Arg1241Ser
XM_011518045.1:c.3421C>A	XP_011516347.1:p.Arg1141Ser
XM_011518046.1:c.3583C>A	XP_011516348.1:p.Arg1195Ser
XM_011518047.1:c.3517C>A	XP_011516349.1:p.Arg1173Ser
XM_011518048.1:c.3517C>A	XP_011516350.1:p.Arg1173Ser
XM_011518049.1:c.1957C>A	XP_011516351.1:p.Arg653Ser
XM_011518045.3:c.3421C>A	XP_011516347.1:p.Arg1141Ser
XM_011518046.2:c.3583C>A	XP_011516348.1:p.Arg1195Ser
XM_011518047.3:c.3517C>A	XP_011516349.1:p.Arg1173Ser
XM_011518048.2:c.3517C>A	XP_011516350.1:p.Arg1173Ser
XM_011518049.2:c.1957C>A	XP_011516351.1:p.Arg653Ser
XM_017015173.1:c.3517C>A	XP_016870662.1:p.Arg1173Ser
XM_017015174.1:c.3583C>A	XP_016870663.1:p.Arg1195Ser
NM_001190458.2:c.3421C>A	NP_001177387.1:p.Arg1141Ser
NM_001193536.2:c.3517C>A	NP_001180465.1:p.Arg1173Ser
NM_203447.4:c.3721C>A MANE Select	NP_982272.2:p.Arg1241Ser