Canonical Allele Identifier: CA174675

Gene: KCNQ5

Linked Data

• ClinVar Variation Id: 161727
• ClinVar RCV Id: RCV000149263 ; RCV002055944
• dbSNP Id: rs148543637
• ExAC: 6:73904448 G / A
• gnomAD v2: 6-73904448-G-A
• gnomAD v3: 6-73194725-G-A
• gnomAD v4: 6-73194725-G-A
• COSMIC: COSM1179918
• MyVariant Identifiers: chr6:g.73904448G>A (hg19) ; chr6:g.73194725G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73194725G>A , CM000668.2:g.73194725G>A	GRCh38
NC_000006.11:g.73904448G>A , CM000668.1:g.73904448G>A	GRCh37
NC_000006.10:g.73961169G>A	NCBI36
NG_047170.1:g.578446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355194.9:c.2131G>A	ENSP00000347326.5:p.Ala711Thr
ENST00000403813.7:n.1419G>A
ENST00000414165.7:n.1085G>A
ENST00000370398.6:c.2110G>A MANE Select	ENSP00000359425.1:p.Ala704Thr
ENST00000342056.6:c.2167G>A	ENSP00000345055.2:p.Ala723Thr
ENST00000355194.8:c.2110G>A	ENSP00000347326.4:p.Ala704Thr
ENST00000355635.7:c.2167G>A	ENSP00000347853.4:p.Ala723Thr
ENST00000370398.5:c.2110G>A	ENSP00000359425.1:p.Ala704Thr
ENST00000402622.6:c.2140G>A	ENSP00000385501.3:p.Ala714Thr
ENST00000403813.6:c.2083G>A	ENSP00000384453.3:p.Ala695Thr
ENST00000414165.6:c.1780G>A	ENSP00000409861.3:p.Ala594Thr
ENST00000628967.2:c.1780G>A	ENSP00000486187.1:p.Ala594Thr
ENST00000629977.2:c.2083G>A	ENSP00000485743.1:p.Ala695Thr
NM_001160130.1:c.2083G>A	NP_001153602.1:p.Ala695Thr
NM_001160132.1:c.2140G>A	NP_001153604.1:p.Ala714Thr
NM_001160133.1:c.2167G>A	NP_001153605.1:p.Ala723Thr
NM_001160134.1:c.1780G>A	NP_001153606.1:p.Ala594Thr
NM_019842.3:c.2110G>A	NP_062816.2:p.Ala704Thr
XM_011535944.1:c.2131G>A	XP_011534246.1:p.Ala711Thr
XM_011535945.1:c.970G>A	XP_011534247.1:p.Ala324Thr
NM_001160130.2:c.2083G>A	NP_001153602.1:p.Ala695Thr
NM_001160132.2:c.2140G>A	NP_001153604.1:p.Ala714Thr
NM_001160133.2:c.2167G>A	NP_001153605.1:p.Ala723Thr
NM_001160134.2:c.1780G>A	NP_001153606.1:p.Ala594Thr
NM_019842.4:c.2110G>A MANE Select	NP_062816.2:p.Ala704Thr