Canonical Allele Identifier: CA2645130419
Gene: KCNQ4 HGNC NCBI

Linked Data

gnomAD v4: 1-40783930-AGCGCCCGCCCGCGGCCCCGGCCCGGCCCCTAGCCCCCGCCGCCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783941_40783984del , CM000663.2:g.40783941_40783984del GRCh38
NC_000001.10:g.41249613_41249656del , CM000663.1:g.41249613_41249656del GRCh37
NC_000001.9:g.41022200_41022243del NCBI36
NG_008139.1:g.4930_4973del
NG_008139.2:g.4930_4973del
NG_008139.3:g.5155_5198del

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-153_-110del MANE Select ENSP00000262916.6:n.-153_-110del
NM_004700.4:c.-153_-110del MANE Select NP_004691.2:n.-153_-110del
NM_172163.3:c.-153_-110del NP_751895.1:n.-153_-110del
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