Canonical Allele Identifier: CA339885315

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1647182713
• gnomAD v4: 1-40784325-A-C
• MyVariant Identifiers: chr1:g.41249997A>C (hg19) ; chr1:g.40784325A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784325A>C , CM000663.2:g.40784325A>C	GRCh38
NC_000001.10:g.41249997A>C , CM000663.1:g.41249997A>C	GRCh37
NC_000001.9:g.41022584A>C	NCBI36
NG_008139.1:g.5314A>C
NG_008139.2:g.5314A>C
NG_008139.3:g.5539A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.232A>C MANE Select	ENSP00000262916.6:p.Lys78Gln
ENST00000347132.9:c.232A>C	ENSP00000262916.6:p.Lys78Gln
ENST00000509682.6:c.232A>C	ENSP00000423756.2:p.Lys78Gln
NM_004700.3:c.232A>C	NP_004691.2:p.Lys78Gln
NM_172163.2:c.232A>C	NP_751895.1:p.Lys78Gln
XM_011542417.1:c.232A>C	XP_011540719.1:p.Lys78Gln
XM_011542418.1:c.232A>C	XP_011540720.1:p.Lys78Gln
XM_011542419.1:c.232A>C	XP_011540721.1:p.Lys78Gln
XM_011542420.1:c.232A>C	XP_011540722.1:p.Lys78Gln
XR_946798.1:n.238A>C
XR_946799.1:n.238A>C
XR_946800.1:n.238A>C
NM_004700.4:c.232A>C MANE Select	NP_004691.2:p.Lys78Gln
NM_172163.3:c.232A>C	NP_751895.1:p.Lys78Gln