Canonical Allele Identifier: CA735772234
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1356814167
gnomAD v4: 1-40783980-C-T
MyVariant Identifiers: chr1:g.41249652C>T (hg19) chr1:g.40783980C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783980C>T , CM000663.2:g.40783980C>T GRCh38
NC_000001.10:g.41249652C>T , CM000663.1:g.41249652C>T GRCh37
NC_000001.9:g.41022239C>T NCBI36
NG_008139.1:g.4969C>T
NG_008139.2:g.4969C>T
NG_008139.3:g.5194C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-114C>T MANE Select ENSP00000262916.6:n.-114C>T
NM_004700.4:c.-114C>T MANE Select NP_004691.2:n.-114C>T
NM_172163.3:c.-114C>T NP_751895.1:n.-114C>T
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