Canonical Allele Identifier: CA794453

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 2383244
• ClinVar RCV Id: RCV002689321
• dbSNP Id: rs752032294
• ExAC: 1:41249959 C / T
• gnomAD v2: 1-41249959-C-T
• gnomAD v3: 1-40784287-C-T
• gnomAD v4: 1-40784287-C-T
• MyVariant Identifiers: chr1:g.41249959C>T (hg19) ; chr1:g.40784287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784287C>T , CM000663.2:g.40784287C>T	GRCh38
NC_000001.10:g.41249959C>T , CM000663.1:g.41249959C>T	GRCh37
NC_000001.9:g.41022546C>T	NCBI36
NG_008139.1:g.5276C>T
NG_008139.2:g.5276C>T
NG_008139.3:g.5501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.194C>T MANE Select	ENSP00000262916.6:p.Ser65Leu
ENST00000347132.9:c.194C>T	ENSP00000262916.6:p.Ser65Leu
ENST00000509682.6:c.194C>T	ENSP00000423756.2:p.Ser65Leu
NM_004700.3:c.194C>T	NP_004691.2:p.Ser65Leu
NM_172163.2:c.194C>T	NP_751895.1:p.Ser65Leu
XM_011542417.1:c.194C>T	XP_011540719.1:p.Ser65Leu
XM_011542418.1:c.194C>T	XP_011540720.1:p.Ser65Leu
XM_011542419.1:c.194C>T	XP_011540721.1:p.Ser65Leu
XM_011542420.1:c.194C>T	XP_011540722.1:p.Ser65Leu
XR_946798.1:n.200C>T
XR_946799.1:n.200C>T
XR_946800.1:n.200C>T
NM_004700.4:c.194C>T MANE Select	NP_004691.2:p.Ser65Leu
NM_172163.3:c.194C>T	NP_751895.1:p.Ser65Leu