Canonical Allele Identifier: CA522803597

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1160657908
• gnomAD v2: 1-41296682-C-T
• gnomAD v3: 1-40831010-C-T
• gnomAD v4: 1-40831010-C-T
• MyVariant Identifiers: chr1:g.41296682C>T (hg19) ; chr1:g.40831010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40831010C>T , CM000663.2:g.40831010C>T	GRCh38
NC_000001.10:g.41296682C>T , CM000663.1:g.41296682C>T	GRCh37
NC_000001.9:g.41069269C>T	NCBI36
NG_008139.1:g.51999C>T
NG_008139.2:g.51999C>T
NG_008139.3:g.52224C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-74C>T MANE Select	ENSP00000262916.6:n.1293-74C>T
ENST00000347132.9:c.1293-74C>T	ENSP00000262916.6:n.1293-74C>T
ENST00000443478.3:c.874-74C>T
ENST00000506017.1:n.612-74C>T
ENST00000509682.6:c.1131-74C>T	ENSP00000423756.2:n.1131-74C>T
NM_004700.3:c.1293-74C>T	NP_004691.2:n.1293-74C>T
NM_172163.2:c.1131-74C>T	NP_751895.1:n.1131-74C>T
XM_011542418.1:c.*163C>T	XP_011540720.1:n.*163C>T
XR_946798.1:n.1299-74C>T
XR_946799.1:n.1299-74C>T
XR_946800.1:n.1048-74C>T
XM_017002792.1:c.276-74C>T	XP_016858281.1:n.276-74C>T
NM_004700.4:c.1293-74C>T MANE Select	NP_004691.2:n.1293-74C>T
NM_172163.3:c.1131-74C>T	NP_751895.1:n.1131-74C>T