Canonical Allele Identifier: CA522803643

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1476670531
• gnomAD v2: 1-41304148-GC-G
• gnomAD v4: 1-40838476-GC-G
• MyVariant Identifiers: chr1:g.41304149del (hg19) ; chr1:g.40838477del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838477del , CM000663.2:g.40838477del	GRCh38
NC_000001.10:g.41304149del , CM000663.1:g.41304149del	GRCh37
NC_000001.9:g.41076736del	NCBI36
NG_008139.1:g.59466del
NG_008139.2:g.59466del
NG_008139.3:g.59691del

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.2042del MANE Select	ENSP00000262916.6:p.Ala681AspfsTer?
ENST00000347132.9:c.2042del	ENSP00000262916.6:p.Ala681AspfsTer?
ENST00000443478.3:c.1623del
ENST00000506017.1:n.1361del
ENST00000509682.6:c.1880del	ENSP00000423756.2:p.Ala627AspfsTer?
NM_004700.3:c.2042del	NP_004691.2:p.Ala681AspfsTer?
NM_172163.2:c.1880del	NP_751895.1:p.Ala627AspfsTer?
XM_017002792.1:c.1025del	XP_016858281.1:p.Ala342AspfsTer?
NM_004700.4:c.2042del MANE Select	NP_004691.2:p.Ala681AspfsTer?
NM_172163.3:c.1880del	NP_751895.1:p.Ala627AspfsTer?