Canonical Allele Identifier: CA735781823

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1449537711
• gnomAD v3: 1-40830860-TGTGGGTG-T
• gnomAD v4: 1-40830860-TGTGGGTG-T
• MyVariant Identifiers: chr1:g.41296533_41296539del (hg19) ; chr1:g.40830861_40830867del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830866_40830872del , CM000663.2:g.40830866_40830872del	GRCh38
NC_000001.10:g.41296538_41296544del , CM000663.1:g.41296538_41296544del	GRCh37
NC_000001.9:g.41069125_41069131del	NCBI36
NG_008139.1:g.51855_51861del
NG_008139.2:g.51855_51861del
NG_008139.3:g.52080_52086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-218_1293-212del MANE Select	ENSP00000262916.6:n.1293-218_1293-212del
ENST00000347132.9:c.1293-218_1293-212del	ENSP00000262916.6:n.1293-218_1293-212del
ENST00000443478.3:c.874-218_874-212del
ENST00000506017.1:n.612-218_612-212del
ENST00000509682.6:c.1131-218_1131-212del	ENSP00000423756.2:n.1131-218_1131-212del
NM_004700.3:c.1293-218_1293-212del	NP_004691.2:n.1293-218_1293-212del
NM_172163.2:c.1131-218_1131-212del	NP_751895.1:n.1131-218_1131-212del
XM_011542418.1:c.*19_*25del	XP_011540720.1:n.*19_*25del
XR_946798.1:n.1299-218_1299-212del
XR_946799.1:n.1299-218_1299-212del
XR_946800.1:n.1048-218_1048-212del
XM_017002792.1:c.276-218_276-212del	XP_016858281.1:n.276-218_276-212del
NM_004700.4:c.1293-218_1293-212del MANE Select	NP_004691.2:n.1293-218_1293-212del
NM_172163.3:c.1131-218_1131-212del	NP_751895.1:n.1131-218_1131-212del