Canonical Allele Identifier: CA2645138394

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40830990-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830990G>T , CM000663.2:g.40830990G>T	GRCh38
NC_000001.10:g.41296662G>T , CM000663.1:g.41296662G>T	GRCh37
NC_000001.9:g.41069249G>T	NCBI36
NG_008139.1:g.51979G>T
NG_008139.2:g.51979G>T
NG_008139.3:g.52204G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-94G>T MANE Select	ENSP00000262916.6:n.1293-94G>T
ENST00000347132.9:c.1293-94G>T	ENSP00000262916.6:n.1293-94G>T
ENST00000443478.3:c.874-94G>T
ENST00000506017.1:n.612-94G>T
ENST00000509682.6:c.1131-94G>T	ENSP00000423756.2:n.1131-94G>T
NM_004700.3:c.1293-94G>T	NP_004691.2:n.1293-94G>T
NM_172163.2:c.1131-94G>T	NP_751895.1:n.1131-94G>T
XM_011542418.1:c.*143G>T	XP_011540720.1:n.*143G>T
XR_946798.1:n.1299-94G>T
XR_946799.1:n.1299-94G>T
XR_946800.1:n.1048-94G>T
XM_017002792.1:c.276-94G>T	XP_016858281.1:n.276-94G>T
NM_004700.4:c.1293-94G>T MANE Select	NP_004691.2:n.1293-94G>T
NM_172163.3:c.1131-94G>T	NP_751895.1:n.1131-94G>T