Canonical Allele Identifier: CA522803431
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1427139675
gnomAD v2: 1-41249621-G-A
MyVariant Identifiers: chr1:g.41249621G>A (hg19) chr1:g.40783949G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783949G>A , CM000663.2:g.40783949G>A GRCh38
NC_000001.10:g.41249621G>A , CM000663.1:g.41249621G>A GRCh37
NC_000001.9:g.41022208G>A NCBI36
NG_008139.1:g.4938G>A
NG_008139.2:g.4938G>A
NG_008139.3:g.5163G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-145G>A MANE Select ENSP00000262916.6:n.-145G>A
NM_004700.4:c.-145G>A MANE Select NP_004691.2:n.-145G>A
NM_172163.3:c.-145G>A NP_751895.1:n.-145G>A
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