Canonical Allele Identifier: CA735772250

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1406266347
• MyVariant Identifiers: chr1:g.41249702_41249730del (hg19) ; chr1:g.40784030_40784058del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784034_40784062del , CM000663.2:g.40784034_40784062del	GRCh38
NC_000001.10:g.41249706_41249734del , CM000663.1:g.41249706_41249734del	GRCh37
NC_000001.9:g.41022293_41022321del	NCBI36
NG_008139.1:g.5023_5051del
NG_008139.2:g.5023_5051del
NG_008139.3:g.5248_5276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.-60_-32del MANE Select	ENSP00000262916.6:n.-60_-32del
ENST00000347132.9:c.-60_-32del	ENSP00000262916.6:n.-60_-32del
NM_004700.3:c.-60_-32del	NP_004691.2:n.-60_-32del
NM_172163.2:c.-60_-32del	NP_751895.1:n.-60_-32del
NM_004700.4:c.-60_-32del MANE Select	NP_004691.2:n.-60_-32del
NM_172163.3:c.-60_-32del	NP_751895.1:n.-60_-32del