Canonical Allele Identifier: CA2989900

Gene: HELQ

Linked Data

• ClinVar Variation Id: 3060988
• ClinVar RCV Id: RCV003982500
• dbSNP Id: rs1494961
• ExAC: 4:84374480 C / T
• gnomAD v2: 4-84374480-C-T
• gnomAD v3: 4-83453327-C-T
• gnomAD v4: 4-83453327-C-T
• MyVariant Identifiers: chr4:g.84374480C>T (hg19) ; chr4:g.83453327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83453327C>T , CM000666.2:g.83453327C>T	GRCh38
NC_000004.11:g.84374480C>T , CM000666.1:g.84374480C>T	GRCh37
NC_000004.10:g.84593504C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000295488.8:c.916G>A MANE Select	ENSP00000295488.3:p.Val306Ile
ENST00000295488.7:c.916G>A	ENSP00000295488.3:p.Val306Ile
ENST00000508591.5:c.916G>A	ENSP00000424186.1:p.Val306Ile
ENST00000510985.1:c.916G>A	ENSP00000424539.1:p.Val306Ile
NM_001297755.1:c.916G>A	NP_001284684.1:p.Val306Ile
NM_001297756.1:c.-589G>A	NP_001284685.1:n.-589G>A
NM_001297757.1:c.-619G>A	NP_001284686.1:n.-619G>A
NM_001297758.1:c.805G>A	NP_001284687.1:p.Val269Ile
NM_001297759.1:c.916G>A	NP_001284688.1:p.Val306Ile
NM_133636.3:c.916G>A	NP_598375.2:p.Val306Ile
NR_123737.1:n.1234G>A
XM_005262711.1:c.805G>A	XP_005262768.1:p.Val269Ile
XM_005262713.1:c.598G>A	XP_005262770.1:p.Val200Ile
XM_006714076.1:c.916G>A	XP_006714139.1:p.Val306Ile
XM_011531579.1:c.-1574G>A	XP_011529881.1:n.-1574G>A
XM_011531580.1:c.916G>A	XP_011529882.1:p.Val306Ile
XR_938683.1:n.1095G>A
XR_938684.1:n.1095G>A
XM_005262713.3:c.598G>A	XP_005262770.1:p.Val200Ile
XM_006714076.3:c.916G>A	XP_006714139.1:p.Val306Ile
XM_011531580.3:c.916G>A	XP_011529882.1:p.Val306Ile
XM_017007679.1:c.805G>A	XP_016863168.1:p.Val269Ile
XM_017007680.2:c.598G>A	XP_016863169.1:p.Val200Ile
XM_017007681.2:c.916G>A	XP_016863170.1:p.Val306Ile
XM_017007682.1:c.-589G>A	XP_016863171.1:n.-589G>A
XM_024453883.1:c.598G>A	XP_024309651.1:p.Val200Ile
XM_024453884.1:c.-388G>A	XP_024309652.1:n.-388G>A
XR_938683.3:n.1095G>A
NM_133636.4:c.916G>A	NP_598375.2:p.Val306Ile
NM_001297755.2:c.916G>A	NP_001284684.2:p.Val306Ile
NM_001297756.2:c.-589G>A	NP_001284685.1:n.-589G>A
NM_001297757.2:c.-619G>A	NP_001284686.1:n.-619G>A
NM_001297758.2:c.805G>A	NP_001284687.2:p.Val269Ile
NM_001297759.2:c.916G>A	NP_001284688.2:p.Val306Ile
NM_133636.5:c.916G>A MANE Select	NP_598375.3:p.Val306Ile