Canonical Allele Identifier: CA339885297

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 2305862
• ClinVar RCV Id: RCV002874788
• dbSNP Id: rs1411591349
• gnomAD v2: 1-41249989-C-T
• gnomAD v4: 1-40784317-C-T
• MyVariant Identifiers: chr1:g.41249989C>T (hg19) ; chr1:g.40784317C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784317C>T , CM000663.2:g.40784317C>T	GRCh38
NC_000001.10:g.41249989C>T , CM000663.1:g.41249989C>T	GRCh37
NC_000001.9:g.41022576C>T	NCBI36
NG_008139.1:g.5306C>T
NG_008139.2:g.5306C>T
NG_008139.3:g.5531C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.224C>T MANE Select	ENSP00000262916.6:p.Ala75Val
ENST00000347132.9:c.224C>T	ENSP00000262916.6:p.Ala75Val
ENST00000509682.6:c.224C>T	ENSP00000423756.2:p.Ala75Val
NM_004700.3:c.224C>T	NP_004691.2:p.Ala75Val
NM_172163.2:c.224C>T	NP_751895.1:p.Ala75Val
XM_011542417.1:c.224C>T	XP_011540719.1:p.Ala75Val
XM_011542418.1:c.224C>T	XP_011540720.1:p.Ala75Val
XM_011542419.1:c.224C>T	XP_011540721.1:p.Ala75Val
XM_011542420.1:c.224C>T	XP_011540722.1:p.Ala75Val
XR_946798.1:n.230C>T
XR_946799.1:n.230C>T
XR_946800.1:n.230C>T
NM_004700.4:c.224C>T MANE Select	NP_004691.2:p.Ala75Val
NM_172163.3:c.224C>T	NP_751895.1:p.Ala75Val