Canonical Allele Identifier: CA2596551551
Gene: KCNQ4 HGNC NCBI

Linked Data

gnomAD v3: 1-40783943-G-GGCCCCGGCCCGGCCCCTA
gnomAD v4: 1-40783943-G-GGCCCCGGCCCGGCCCCTA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783949_40783966dup , CM000663.2:g.40783949_40783966dup GRCh38
NC_000001.10:g.41249621_41249638dup , CM000663.1:g.41249621_41249638dup GRCh37
NC_000001.9:g.41022208_41022225dup NCBI36
NG_008139.1:g.4938_4955dup
NG_008139.2:g.4938_4955dup
NG_008139.3:g.5163_5180dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-145_-128dup MANE Select ENSP00000262916.6:n.-145_-128dup
NM_004700.4:c.-145_-128dup MANE Select NP_004691.2:n.-145_-128dup
NM_172163.3:c.-145_-128dup NP_751895.1:n.-145_-128dup
Search 100 bp 5'
Search 100 bp 3'