Canonical Allele Identifier: CA21083005

Gene: KCNQ4

Linked Data

• dbSNP Id: rs754406584
• gnomAD v2: 1-41296468-C-A
• gnomAD v3: 1-40830796-C-A
• gnomAD v4: 1-40830796-C-A
• MyVariant Identifiers: chr1:g.41296468C>A (hg19) ; chr1:g.40830796C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830796C>A , CM000663.2:g.40830796C>A	GRCh38
NC_000001.10:g.41296468C>A , CM000663.1:g.41296468C>A	GRCh37
NC_000001.9:g.41069055C>A	NCBI36
NG_008139.1:g.51785C>A
NG_008139.2:g.51785C>A
NG_008139.3:g.52010C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-288C>A MANE Select	ENSP00000262916.6:n.1293-288C>A
ENST00000347132.9:c.1293-288C>A	ENSP00000262916.6:n.1293-288C>A
ENST00000443478.3:c.874-288C>A
ENST00000506017.1:n.612-288C>A
ENST00000509682.6:c.1131-288C>A	ENSP00000423756.2:n.1131-288C>A
NM_004700.3:c.1293-288C>A	NP_004691.2:n.1293-288C>A
NM_172163.2:c.1131-288C>A	NP_751895.1:n.1131-288C>A
XM_011542418.1:c.1314C>A	XP_011540720.1:p.His438Gln
XR_946798.1:n.1299-288C>A
XR_946799.1:n.1299-288C>A
XR_946800.1:n.1048-288C>A
XM_017002792.1:c.276-288C>A	XP_016858281.1:n.276-288C>A
NM_004700.4:c.1293-288C>A MANE Select	NP_004691.2:n.1293-288C>A
NM_172163.3:c.1131-288C>A	NP_751895.1:n.1131-288C>A