Canonical Allele Identifier: CA1164531018
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1647179195
gnomAD v4: 1-40784021-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40784021T>C , CM000663.2:g.40784021T>C GRCh38
NC_000001.10:g.41249693T>C , CM000663.1:g.41249693T>C GRCh37
NC_000001.9:g.41022280T>C NCBI36
NG_008139.1:g.5010T>C
NG_008139.2:g.5010T>C
NG_008139.3:g.5235T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-73T>C MANE Select ENSP00000262916.6:n.-73T>C
ENST00000347132.9:c.-73T>C ENSP00000262916.6:n.-73T>C
NM_004700.3:c.-73T>C NP_004691.2:n.-73T>C
NM_172163.2:c.-73T>C NP_751895.1:n.-73T>C
NM_004700.4:c.-73T>C MANE Select NP_004691.2:n.-73T>C
NM_172163.3:c.-73T>C NP_751895.1:n.-73T>C
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