Canonical Allele Identifier: CA347456

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 208364
• ClinVar RCV Id: RCV000655876
• dbSNP Id: rs1553165199
• MyVariant Identifiers: chr1:g.41249993_41249994dupGC (hg19) ; chr1:g.41249994_41249995insGC (hg19) ; chr1:g.40784321_40784322dupGC (hg38) ; chr1:g.40784322_40784323insGC (hg38)
• PubMed: PMID:20301388 ; PMID:23717403

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784321_40784322dup , CM000663.2:g.40784321_40784322dup	GRCh38
NC_000001.10:g.41249993_41249994dup , CM000663.1:g.41249993_41249994dup	GRCh37
NC_000001.9:g.41022580_41022581dup	NCBI36
NG_008139.1:g.5310_5311dup
NG_008139.2:g.5310_5311dup
NG_008139.3:g.5535_5536dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.228_229dup MANE Select	ENSP00000262916.6:p.His77ArgfsTer?
ENST00000347132.9:c.228_229dup	ENSP00000262916.6:p.His77ArgfsTer?
ENST00000509682.6:c.228_229dup	ENSP00000423756.2:p.His77ArgfsTer?
NM_004700.3:c.228_229dup	NP_004691.2:p.His77ArgfsTer?
NM_172163.2:c.228_229dup	NP_751895.1:p.His77ArgfsTer?
XM_011542417.1:c.228_229dup	XP_011540719.1:p.His77ArgfsTer?
XM_011542418.1:c.228_229dup	XP_011540720.1:p.His77ArgfsTer?
XM_011542419.1:c.228_229dup	XP_011540721.1:p.His77ArgfsTer?
XM_011542420.1:c.228_229dup	XP_011540722.1:p.His77ArgfsTer?
XR_946798.1:n.234_235dup
XR_946799.1:n.234_235dup
XR_946800.1:n.234_235dup
NM_004700.4:c.228_229dup MANE Select	NP_004691.2:p.His77ArgfsTer?
NM_172163.3:c.228_229dup	NP_751895.1:p.His77ArgfsTer?