Canonical Allele Identifier: CA2645138454
Gene: KCNQ4 HGNC NCBI

Linked Data

gnomAD v4: 1-40831073-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40831073T>A , CM000663.2:g.40831073T>A GRCh38
NC_000001.10:g.41296745T>A , CM000663.1:g.41296745T>A GRCh37
NC_000001.9:g.41069332T>A NCBI36
NG_008139.1:g.52062T>A
NG_008139.2:g.52062T>A
NG_008139.3:g.52287T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000347132.10:c.1293-11T>A MANE Select ENSP00000262916.6:n.1293-11T>A
ENST00000347132.9:c.1293-11T>A ENSP00000262916.6:n.1293-11T>A
ENST00000443478.3:c.874-11T>A
ENST00000506017.1:n.612-11T>A
ENST00000509682.6:c.1131-11T>A ENSP00000423756.2:n.1131-11T>A
NM_004700.3:c.1293-11T>A NP_004691.2:n.1293-11T>A
NM_172163.2:c.1131-11T>A NP_751895.1:n.1131-11T>A
XR_946798.1:n.1299-11T>A
XR_946799.1:n.1299-11T>A
XR_946800.1:n.1048-11T>A
XM_017002792.1:c.276-11T>A XP_016858281.1:n.276-11T>A
NM_004700.4:c.1293-11T>A MANE Select NP_004691.2:n.1293-11T>A
NM_172163.3:c.1131-11T>A NP_751895.1:n.1131-11T>A