Canonical Allele Identifier: CA4958757

Gene: DOCK8

Linked Data

• dbSNP Id: rs146865157
• ExAC: 9:414852 C / A
• gnomAD v2: 9-414852-C-A
• gnomAD v4: 9-414852-C-A
• MyVariant Identifiers: chr9:g.414852C>A (hg19) ; chr9:g.414852C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414852C>A , CM000671.2:g.414852C>A	GRCh38
NC_000009.11:g.414852C>A , CM000671.1:g.414852C>A	GRCh37
NC_000009.10:g.404852C>A	NCBI36
NG_017007.1:g.204988C>A , LRG_196:g.204988C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3301C>A	ENSP00000371766.2:p.Arg1101Ser
ENST00000683406.1:n.122C>A
ENST00000685949.1:n.2389C>A
ENST00000432829.7:c.3601C>A MANE Select	ENSP00000394888.3:p.Arg1201Ser
ENST00000382329.1:c.2002C>A	ENSP00000371766.1:p.Arg668Ser
ENST00000432829.6:c.3601C>A	ENSP00000394888.3:p.Arg1201Ser
ENST00000453981.5:c.3397C>A	ENSP00000408464.2:p.Arg1133Ser
ENST00000469391.5:c.3301C>A	ENSP00000419438.1:p.Arg1101Ser
ENST00000495184.5:n.5556C>A
NM_001190458.1:c.3301C>A	NP_001177387.1:p.Arg1101Ser
NM_001193536.1:c.3397C>A	NP_001180465.1:p.Arg1133Ser
NM_203447.3:c.3601C>A , LRG_196t1:c.3601C>A	NP_982272.2:p.Arg1201Ser
XM_011518045.1:c.3301C>A	XP_011516347.1:p.Arg1101Ser
XM_011518046.1:c.3463C>A	XP_011516348.1:p.Arg1155Ser
XM_011518047.1:c.3397C>A	XP_011516349.1:p.Arg1133Ser
XM_011518048.1:c.3397C>A	XP_011516350.1:p.Arg1133Ser
XM_011518049.1:c.1837C>A	XP_011516351.1:p.Arg613Ser
XM_011518045.3:c.3301C>A	XP_011516347.1:p.Arg1101Ser
XM_011518046.2:c.3463C>A	XP_011516348.1:p.Arg1155Ser
XM_011518047.3:c.3397C>A	XP_011516349.1:p.Arg1133Ser
XM_011518048.2:c.3397C>A	XP_011516350.1:p.Arg1133Ser
XM_011518049.2:c.1837C>A	XP_011516351.1:p.Arg613Ser
XM_017015173.1:c.3397C>A	XP_016870662.1:p.Arg1133Ser
XM_017015174.1:c.3463C>A	XP_016870663.1:p.Arg1155Ser
NM_001190458.2:c.3301C>A	NP_001177387.1:p.Arg1101Ser
NM_001193536.2:c.3397C>A	NP_001180465.1:p.Arg1133Ser
NM_203447.4:c.3601C>A MANE Select	NP_982272.2:p.Arg1201Ser