Canonical Allele Identifier: CA2645130425
Gene: KCNQ4 HGNC NCBI

Linked Data

gnomAD v4: 1-40783931-GCGCCCGCCCGCGGCCCCGGCCCGGCCCCTAGCCCC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783936_40783970del , CM000663.2:g.40783936_40783970del GRCh38
NC_000001.10:g.41249608_41249642del , CM000663.1:g.41249608_41249642del GRCh37
NC_000001.9:g.41022195_41022229del NCBI36
NG_008139.1:g.4925_4959del
NG_008139.2:g.4925_4959del
NG_008139.3:g.5150_5184del

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-158_-124del MANE Select ENSP00000262916.6:n.-158_-124del
NM_004700.4:c.-158_-124del MANE Select NP_004691.2:n.-158_-124del
NM_172163.3:c.-158_-124del NP_751895.1:n.-158_-124del
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