Canonical Allele Identifier: CA2645130469
Gene: KCNQ4 HGNC NCBI

Linked Data

gnomAD v4: 1-40783961-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783961A>C , CM000663.2:g.40783961A>C GRCh38
NC_000001.10:g.41249633A>C , CM000663.1:g.41249633A>C GRCh37
NC_000001.9:g.41022220A>C NCBI36
NG_008139.1:g.4950A>C
NG_008139.2:g.4950A>C
NG_008139.3:g.5175A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-133A>C MANE Select ENSP00000262916.6:n.-133A>C
NM_004700.4:c.-133A>C MANE Select NP_004691.2:n.-133A>C
NM_172163.3:c.-133A>C NP_751895.1:n.-133A>C
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