Canonical Allele Identifier: CA372760933

Gene: DOCK8

Linked Data

• gnomAD v4: 9-414905-A-T
• MyVariant Identifiers: chr9:g.414905A>T (hg19) ; chr9:g.414905A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414905A>T , CM000671.2:g.414905A>T	GRCh38
NC_000009.11:g.414905A>T , CM000671.1:g.414905A>T	GRCh37
NC_000009.10:g.404905A>T	NCBI36
NG_017007.1:g.205041A>T , LRG_196:g.205041A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3354A>T	ENSP00000371766.2:p.Leu1118Phe
ENST00000683406.1:n.175A>T
ENST00000685949.1:n.2442A>T
ENST00000432829.7:c.3654A>T MANE Select	ENSP00000394888.3:p.Leu1218Phe
ENST00000382329.1:c.2055A>T	ENSP00000371766.1:p.Leu685Phe
ENST00000432829.6:c.3654A>T	ENSP00000394888.3:p.Leu1218Phe
ENST00000453981.5:c.3450A>T	ENSP00000408464.2:p.Leu1150Phe
ENST00000469391.5:c.3354A>T	ENSP00000419438.1:p.Leu1118Phe
ENST00000495184.5:n.5609A>T
NM_001190458.1:c.3354A>T	NP_001177387.1:p.Leu1118Phe
NM_001193536.1:c.3450A>T	NP_001180465.1:p.Leu1150Phe
NM_203447.3:c.3654A>T , LRG_196t1:c.3654A>T	NP_982272.2:p.Leu1218Phe
XM_011518045.1:c.3354A>T	XP_011516347.1:p.Leu1118Phe
XM_011518046.1:c.3516A>T	XP_011516348.1:p.Leu1172Phe
XM_011518047.1:c.3450A>T	XP_011516349.1:p.Leu1150Phe
XM_011518048.1:c.3450A>T	XP_011516350.1:p.Leu1150Phe
XM_011518049.1:c.1890A>T	XP_011516351.1:p.Leu630Phe
XM_011518045.3:c.3354A>T	XP_011516347.1:p.Leu1118Phe
XM_011518046.2:c.3516A>T	XP_011516348.1:p.Leu1172Phe
XM_011518047.3:c.3450A>T	XP_011516349.1:p.Leu1150Phe
XM_011518048.2:c.3450A>T	XP_011516350.1:p.Leu1150Phe
XM_011518049.2:c.1890A>T	XP_011516351.1:p.Leu630Phe
XM_017015173.1:c.3450A>T	XP_016870662.1:p.Leu1150Phe
XM_017015174.1:c.3516A>T	XP_016870663.1:p.Leu1172Phe
NM_001190458.2:c.3354A>T	NP_001177387.1:p.Leu1118Phe
NM_001193536.2:c.3450A>T	NP_001180465.1:p.Leu1150Phe
NM_203447.4:c.3654A>T MANE Select	NP_982272.2:p.Leu1218Phe