Canonical Allele Identifier: CA372761040

Gene: DOCK8

Linked Data

• dbSNP Id: rs1462396701
• gnomAD v2: 9-414920-G-C
• gnomAD v4: 9-414920-G-C
• MyVariant Identifiers: chr9:g.414920G>C (hg19) ; chr9:g.414920G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.414920G>C , CM000671.2:g.414920G>C	GRCh38
NC_000009.11:g.414920G>C , CM000671.1:g.414920G>C	GRCh37
NC_000009.10:g.404920G>C	NCBI36
NG_017007.1:g.205056G>C , LRG_196:g.205056G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.3369G>C	ENSP00000371766.2:p.Leu1123Phe
ENST00000683406.1:n.190G>C
ENST00000685949.1:n.2457G>C
ENST00000432829.7:c.3669G>C MANE Select	ENSP00000394888.3:p.Leu1223Phe
ENST00000382329.1:c.2070G>C	ENSP00000371766.1:p.Leu690Phe
ENST00000432829.6:c.3669G>C	ENSP00000394888.3:p.Leu1223Phe
ENST00000453981.5:c.3465G>C	ENSP00000408464.2:p.Leu1155Phe
ENST00000469391.5:c.3369G>C	ENSP00000419438.1:p.Leu1123Phe
ENST00000495184.5:n.5624G>C
NM_001190458.1:c.3369G>C	NP_001177387.1:p.Leu1123Phe
NM_001193536.1:c.3465G>C	NP_001180465.1:p.Leu1155Phe
NM_203447.3:c.3669G>C , LRG_196t1:c.3669G>C	NP_982272.2:p.Leu1223Phe
XM_011518045.1:c.3369G>C	XP_011516347.1:p.Leu1123Phe
XM_011518046.1:c.3531G>C	XP_011516348.1:p.Leu1177Phe
XM_011518047.1:c.3465G>C	XP_011516349.1:p.Leu1155Phe
XM_011518048.1:c.3465G>C	XP_011516350.1:p.Leu1155Phe
XM_011518049.1:c.1905G>C	XP_011516351.1:p.Leu635Phe
XM_011518045.3:c.3369G>C	XP_011516347.1:p.Leu1123Phe
XM_011518046.2:c.3531G>C	XP_011516348.1:p.Leu1177Phe
XM_011518047.3:c.3465G>C	XP_011516349.1:p.Leu1155Phe
XM_011518048.2:c.3465G>C	XP_011516350.1:p.Leu1155Phe
XM_011518049.2:c.1905G>C	XP_011516351.1:p.Leu635Phe
XM_017015173.1:c.3465G>C	XP_016870662.1:p.Leu1155Phe
XM_017015174.1:c.3531G>C	XP_016870663.1:p.Leu1177Phe
NM_001190458.2:c.3369G>C	NP_001177387.1:p.Leu1123Phe
NM_001193536.2:c.3465G>C	NP_001180465.1:p.Leu1155Phe
NM_203447.4:c.3669G>C MANE Select	NP_982272.2:p.Leu1223Phe