Canonical Allele Identifier: CA372769829

Gene: DOCK8

Linked Data

• dbSNP Id: rs1412147554
• gnomAD v2: 9-452103-G-C
• gnomAD v3: 9-452103-G-C
• gnomAD v4: 9-452103-G-C
• MyVariant Identifiers: chr9:g.452103G>C (hg19) ; chr9:g.452103G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452103G>C , CM000671.2:g.452103G>C	GRCh38
NC_000009.11:g.452103G>C , CM000671.1:g.452103G>C	GRCh37
NC_000009.10:g.442103G>C	NCBI36
NG_017007.1:g.242239G>C , LRG_196:g.242239G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5754G>C	ENSP00000371766.2:p.Lys1918Asn
ENST00000683406.1:n.2529G>C
ENST00000684637.1:n.1735G>C
ENST00000685949.1:n.4842G>C
ENST00000432829.7:c.6054G>C MANE Select	ENSP00000394888.3:p.Lys2018Asn
ENST00000382329.1:c.4455G>C	ENSP00000371766.1:p.Lys1485Asn
ENST00000432829.6:c.6054G>C	ENSP00000394888.3:p.Lys2018Asn
ENST00000453981.5:c.5850G>C	ENSP00000408464.2:p.Lys1950Asn
ENST00000469391.5:c.5754G>C	ENSP00000419438.1:p.Lys1918Asn
ENST00000495184.5:n.8009G>C
NM_001190458.1:c.5754G>C	NP_001177387.1:p.Lys1918Asn
NM_001193536.1:c.5850G>C	NP_001180465.1:p.Lys1950Asn
NM_203447.3:c.6054G>C , LRG_196t1:c.6054G>C	NP_982272.2:p.Lys2018Asn
XM_011518045.1:c.5754G>C	XP_011516347.1:p.Lys1918Asn
XM_011518046.1:c.5916G>C	XP_011516348.1:p.Lys1972Asn
XM_011518047.1:c.5850G>C	XP_011516349.1:p.Lys1950Asn
XM_011518048.1:c.5850G>C	XP_011516350.1:p.Lys1950Asn
XM_011518049.1:c.4290G>C	XP_011516351.1:p.Lys1430Asn
XM_011518045.3:c.5754G>C	XP_011516347.1:p.Lys1918Asn
XM_011518046.2:c.5916G>C	XP_011516348.1:p.Lys1972Asn
XM_011518047.3:c.5850G>C	XP_011516349.1:p.Lys1950Asn
XM_011518048.2:c.5850G>C	XP_011516350.1:p.Lys1950Asn
XM_011518049.2:c.4290G>C	XP_011516351.1:p.Lys1430Asn
XM_017015173.1:c.5850G>C	XP_016870662.1:p.Lys1950Asn
XM_017015174.1:c.5916G>C	XP_016870663.1:p.Lys1972Asn
NM_001190458.2:c.5754G>C	NP_001177387.1:p.Lys1918Asn
NM_001193536.2:c.5850G>C	NP_001180465.1:p.Lys1950Asn
NM_203447.4:c.6054G>C MANE Select	NP_982272.2:p.Lys2018Asn