Canonical Allele Identifier: CA1164549913

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1570847006

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830734A>C , CM000663.2:g.40830734A>C	GRCh38
NC_000001.10:g.41296406A>C , CM000663.1:g.41296406A>C	GRCh37
NC_000001.9:g.41068993A>C	NCBI36
NG_008139.1:g.51723A>C
NG_008139.2:g.51723A>C
NG_008139.3:g.51948A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-350A>C MANE Select	ENSP00000262916.6:n.1293-350A>C
ENST00000347132.9:c.1293-350A>C	ENSP00000262916.6:n.1293-350A>C
ENST00000443478.3:c.874-350A>C
ENST00000506017.1:n.612-350A>C
ENST00000509682.6:c.1131-350A>C	ENSP00000423756.2:n.1131-350A>C
NM_004700.3:c.1293-350A>C	NP_004691.2:n.1293-350A>C
NM_172163.2:c.1131-350A>C	NP_751895.1:n.1131-350A>C
XM_011542418.1:c.1252A>C	XP_011540720.1:p.Thr418Pro
XR_946798.1:n.1299-350A>C
XR_946799.1:n.1299-350A>C
XR_946800.1:n.1048-350A>C
XM_017002792.1:c.276-350A>C	XP_016858281.1:n.276-350A>C
NM_004700.4:c.1293-350A>C MANE Select	NP_004691.2:n.1293-350A>C
NM_172163.3:c.1131-350A>C	NP_751895.1:n.1131-350A>C