Canonical Allele Identifier: CA178688511

Gene: C8orf34

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.68651460G>T , CM000670.2:g.68651460G>T	GRCh38
NC_000008.10:g.69563695G>T , CM000670.1:g.69563695G>T	GRCh37
NC_000008.9:g.69726249G>T	NCBI36
NG_055258.1:g.325739G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518698.6:c.1241+10949G>T MANE Select	ENSP00000427820.1:n.1241+10949G>T
ENST00000325233.3:c.215+10949G>T	ENSP00000319532.3:n.215+10949G>T
ENST00000337103.8:c.908+10949G>T	ENSP00000337174.4:n.908+10949G>T
ENST00000518515.1:n.131-57534G>T
ENST00000518698.5:c.1241+10949G>T	ENSP00000427820.1:n.1241+10949G>T
ENST00000521406.5:c.*374+10949G>T	ENSP00000429081.1:n.*374+10949G>T
NM_052958.2:c.1241+10949G>T	NP_443190.2:n.1241+10949G>T
XM_011517445.1:c.1232+10958G>T	XP_011515747.1:n.1232+10958G>T
XM_011517446.1:c.1241+10949G>T	XP_011515748.1:n.1241+10949G>T
XM_011517447.1:c.1241+10949G>T	XP_011515749.1:n.1241+10949G>T
XM_011517448.1:c.1112+10949G>T	XP_011515750.1:n.1112+10949G>T
XM_011517449.1:c.*12+10933G>T	XP_011515751.1:n.*12+10933G>T
NM_001349476.1:c.1232+10958G>T	NP_001336405.1:n.1232+10958G>T
NM_001349477.1:c.1241+10949G>T	NP_001336406.1:n.1241+10949G>T
NM_001349478.1:c.1112+10949G>T	NP_001336407.1:n.1112+10949G>T
NM_001349479.1:c.1112+10949G>T	NP_001336408.1:n.1112+10949G>T
NM_052958.3:c.1241+10949G>T	NP_443190.2:n.1241+10949G>T
NR_146186.1:n.1746-57534G>T
NR_146187.1:n.1839+10949G>T
XM_011517449.2:c.*12+10933G>T	XP_011515751.1:n.*12+10933G>T
NM_052958.4:c.1241+10949G>T MANE Select	NP_443190.2:n.1241+10949G>T