Canonical Allele Identifier: CA2645138356

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40830953-A-AAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830955_40830956insCAG , CM000663.2:g.40830955_40830956insCAG	GRCh38
NC_000001.10:g.41296627_41296628insCAG , CM000663.1:g.41296627_41296628insCAG	GRCh37
NC_000001.9:g.41069214_41069215insCAG	NCBI36
NG_008139.1:g.51944_51945insCAG
NG_008139.2:g.51944_51945insCAG
NG_008139.3:g.52169_52170insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-129_1293-128insCAG MANE Select	ENSP00000262916.6:n.1293-129_1293-128insCAG
ENST00000347132.9:c.1293-129_1293-128insCAG	ENSP00000262916.6:n.1293-129_1293-128insCAG
ENST00000443478.3:c.874-129_874-128insCAG
ENST00000506017.1:n.612-129_612-128insCAG
ENST00000509682.6:c.1131-129_1131-128insCAG	ENSP00000423756.2:n.1131-129_1131-128insCAG
NM_004700.3:c.1293-129_1293-128insCAG	NP_004691.2:n.1293-129_1293-128insCAG
NM_172163.2:c.1131-129_1131-128insCAG	NP_751895.1:n.1131-129_1131-128insCAG
XM_011542418.1:c.*108_*109insCAG	XP_011540720.1:n.*108_*109insCAG
XR_946798.1:n.1299-129_1299-128insCAG
XR_946799.1:n.1299-129_1299-128insCAG
XR_946800.1:n.1048-129_1048-128insCAG
XM_017002792.1:c.276-129_276-128insCAG	XP_016858281.1:n.276-129_276-128insCAG
NM_004700.4:c.1293-129_1293-128insCAG MANE Select	NP_004691.2:n.1293-129_1293-128insCAG
NM_172163.3:c.1131-129_1131-128insCAG	NP_751895.1:n.1131-129_1131-128insCAG