Canonical Allele Identifier: CA1000914892

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1648617874
• gnomAD v3: 1-40830747-C-T
• gnomAD v4: 1-40830747-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830747C>T , CM000663.2:g.40830747C>T	GRCh38
NC_000001.10:g.41296419C>T , CM000663.1:g.41296419C>T	GRCh37
NC_000001.9:g.41069006C>T	NCBI36
NG_008139.1:g.51736C>T
NG_008139.2:g.51736C>T
NG_008139.3:g.51961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-337C>T MANE Select	ENSP00000262916.6:n.1293-337C>T
ENST00000347132.9:c.1293-337C>T	ENSP00000262916.6:n.1293-337C>T
ENST00000443478.3:c.874-337C>T
ENST00000506017.1:n.612-337C>T
ENST00000509682.6:c.1131-337C>T	ENSP00000423756.2:n.1131-337C>T
NM_004700.3:c.1293-337C>T	NP_004691.2:n.1293-337C>T
NM_172163.2:c.1131-337C>T	NP_751895.1:n.1131-337C>T
XM_011542418.1:c.1265C>T	XP_011540720.1:p.Pro422Leu
XR_946798.1:n.1299-337C>T
XR_946799.1:n.1299-337C>T
XR_946800.1:n.1048-337C>T
XM_017002792.1:c.276-337C>T	XP_016858281.1:n.276-337C>T
NM_004700.4:c.1293-337C>T MANE Select	NP_004691.2:n.1293-337C>T
NM_172163.3:c.1131-337C>T	NP_751895.1:n.1131-337C>T