Canonical Allele Identifier: CA794464

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 2184819
• ClinVar RCV Id: RCV002603506
• dbSNP Id: rs775367552
• ExAC: 1:41249988 G / A
• gnomAD v2: 1-41249988-G-A
• gnomAD v3: 1-40784316-G-A
• gnomAD v4: 1-40784316-G-A
• MyVariant Identifiers: chr1:g.41249988G>A (hg19) ; chr1:g.40784316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784316G>A , CM000663.2:g.40784316G>A	GRCh38
NC_000001.10:g.41249988G>A , CM000663.1:g.41249988G>A	GRCh37
NC_000001.9:g.41022575G>A	NCBI36
NG_008139.1:g.5305G>A
NG_008139.2:g.5305G>A
NG_008139.3:g.5530G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.223G>A MANE Select	ENSP00000262916.6:p.Ala75Thr
ENST00000347132.9:c.223G>A	ENSP00000262916.6:p.Ala75Thr
ENST00000509682.6:c.223G>A	ENSP00000423756.2:p.Ala75Thr
NM_004700.3:c.223G>A	NP_004691.2:p.Ala75Thr
NM_172163.2:c.223G>A	NP_751895.1:p.Ala75Thr
XM_011542417.1:c.223G>A	XP_011540719.1:p.Ala75Thr
XM_011542418.1:c.223G>A	XP_011540720.1:p.Ala75Thr
XM_011542419.1:c.223G>A	XP_011540721.1:p.Ala75Thr
XM_011542420.1:c.223G>A	XP_011540722.1:p.Ala75Thr
XR_946798.1:n.229G>A
XR_946799.1:n.229G>A
XR_946800.1:n.229G>A
NM_004700.4:c.223G>A MANE Select	NP_004691.2:p.Ala75Thr
NM_172163.3:c.223G>A	NP_751895.1:p.Ala75Thr