Canonical Allele Identifier: CA2645130457
Gene: KCNQ4 HGNC NCBI

Linked Data

gnomAD v4: 1-40783953-CGGCCCCTAGCCCCCGCCGCCCGCGCCCGCCCCGGGTCGCCCCTCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783960_40784004del , CM000663.2:g.40783960_40784004del GRCh38
NC_000001.10:g.41249632_41249676del , CM000663.1:g.41249632_41249676del GRCh37
NC_000001.9:g.41022219_41022263del NCBI36
NG_008139.1:g.4949_4993del
NG_008139.2:g.4949_4993del
NG_008139.3:g.5174_5218del

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-134_-90del MANE Select ENSP00000262916.6:n.-134_-90del
NM_004700.4:c.-134_-90del MANE Select NP_004691.2:n.-134_-90del
NM_172163.3:c.-134_-90del NP_751895.1:n.-134_-90del
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