Canonical Allele Identifier: CA21082961

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1036574500
• gnomAD v3: 1-40830743-A-G
• gnomAD v4: 1-40830743-A-G
• MyVariant Identifiers: chr1:g.41296415A>G (hg19) ; chr1:g.40830743A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830743A>G , CM000663.2:g.40830743A>G	GRCh38
NC_000001.10:g.41296415A>G , CM000663.1:g.41296415A>G	GRCh37
NC_000001.9:g.41069002A>G	NCBI36
NG_008139.1:g.51732A>G
NG_008139.2:g.51732A>G
NG_008139.3:g.51957A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-341A>G MANE Select	ENSP00000262916.6:n.1293-341A>G
ENST00000347132.9:c.1293-341A>G	ENSP00000262916.6:n.1293-341A>G
ENST00000443478.3:c.874-341A>G
ENST00000506017.1:n.612-341A>G
ENST00000509682.6:c.1131-341A>G	ENSP00000423756.2:n.1131-341A>G
NM_004700.3:c.1293-341A>G	NP_004691.2:n.1293-341A>G
NM_172163.2:c.1131-341A>G	NP_751895.1:n.1131-341A>G
XM_011542418.1:c.1261A>G	XP_011540720.1:p.Arg421Gly
XR_946798.1:n.1299-341A>G
XR_946799.1:n.1299-341A>G
XR_946800.1:n.1048-341A>G
XM_017002792.1:c.276-341A>G	XP_016858281.1:n.276-341A>G
NM_004700.4:c.1293-341A>G MANE Select	NP_004691.2:n.1293-341A>G
NM_172163.3:c.1131-341A>G	NP_751895.1:n.1131-341A>G