Canonical Allele Identifier: CA463848279

Gene: DOCK8

Linked Data

• dbSNP Id: rs1164559174
• gnomAD v2: 9-376982-C-T
• gnomAD v4: 9-376982-C-T
• MyVariant Identifiers: chr9:g.376982C>T (hg19) ; chr9:g.376982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.376982C>T , CM000671.2:g.376982C>T	GRCh38
NC_000009.11:g.376982C>T , CM000671.1:g.376982C>T	GRCh37
NC_000009.10:g.366982C>T	NCBI36
NG_017007.1:g.167118C>T , LRG_196:g.167118C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2007C>T	ENSP00000371766.2:p.Asn669=
ENST00000382331.6:n.708C>T
ENST00000483757.6:c.*898C>T	ENSP00000417691.2:n.*898C>T
ENST00000682260.1:n.2107C>T
ENST00000685949.1:n.999C>T
ENST00000432829.7:c.2211C>T MANE Select	ENSP00000394888.3:p.Asn737=
ENST00000382329.1:c.612C>T	ENSP00000371766.1:p.Asn204=
ENST00000382331.5:c.117C>T	ENSP00000371768.1:p.Asn39=
ENST00000432829.6:c.2211C>T	ENSP00000394888.3:p.Asn737=
ENST00000453981.5:c.2007C>T	ENSP00000408464.2:p.Asn669=
ENST00000469391.5:c.2007C>T	ENSP00000419438.1:p.Asn669=
ENST00000483757.5:c.*1686C>T	ENSP00000417691.1:n.*1686C>T
ENST00000495184.5:n.4166C>T
NM_001190458.1:c.2007C>T	NP_001177387.1:p.Asn669=
NM_001193536.1:c.2007C>T	NP_001180465.1:p.Asn669=
NM_203447.3:c.2211C>T , LRG_196t1:c.2211C>T	NP_982272.2:p.Asn737=
XM_011518045.1:c.2007C>T	XP_011516347.1:p.Asn669=
XM_011518046.1:c.2073C>T	XP_011516348.1:p.Asn691=
XM_011518047.1:c.2007C>T	XP_011516349.1:p.Asn669=
XM_011518048.1:c.2007C>T	XP_011516350.1:p.Asn669=
XM_011518049.1:c.447C>T	XP_011516351.1:p.Asn149=
XM_011518045.3:c.2007C>T	XP_011516347.1:p.Asn669=
XM_011518046.2:c.2073C>T	XP_011516348.1:p.Asn691=
XM_011518047.3:c.2007C>T	XP_011516349.1:p.Asn669=
XM_011518048.2:c.2007C>T	XP_011516350.1:p.Asn669=
XM_011518049.2:c.447C>T	XP_011516351.1:p.Asn149=
XM_017015173.1:c.2007C>T	XP_016870662.1:p.Asn669=
XM_017015174.1:c.2073C>T	XP_016870663.1:p.Asn691=
NM_001190458.2:c.2007C>T	NP_001177387.1:p.Asn669=
NM_001193536.2:c.2007C>T	NP_001180465.1:p.Asn669=
NM_203447.4:c.2211C>T MANE Select	NP_982272.2:p.Asn737=