Canonical Allele Identifier: CA21086029

Gene: KCNQ4

Linked Data

• dbSNP Id: rs979197528
• gnomAD v2: 1-41300692-A-G
• gnomAD v3: 1-40835020-A-G
• gnomAD v4: 1-40835020-A-G
• MyVariant Identifiers: chr1:g.41300692A>G (hg19) ; chr1:g.40835020A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40835020A>G , CM000663.2:g.40835020A>G	GRCh38
NC_000001.10:g.41300692A>G , CM000663.1:g.41300692A>G	GRCh37
NC_000001.9:g.41073279A>G	NCBI36
NG_008139.1:g.56009A>G
NG_008139.2:g.56009A>G
NG_008139.3:g.56234A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1667A>G MANE Select	ENSP00000262916.6:p.Tyr556Cys
ENST00000347132.9:c.1667A>G	ENSP00000262916.6:p.Tyr556Cys
ENST00000443478.3:c.1248A>G
ENST00000506017.1:n.986A>G
ENST00000509682.6:c.1505A>G	ENSP00000423756.2:p.Tyr502Cys
NM_004700.3:c.1667A>G	NP_004691.2:p.Tyr556Cys
NM_172163.2:c.1505A>G	NP_751895.1:p.Tyr502Cys
XR_946798.1:n.1689A>G
XR_946799.1:n.1689A>G
XR_946800.1:n.1422A>G
XM_017002792.1:c.650A>G	XP_016858281.1:p.Tyr217Cys
NM_004700.4:c.1667A>G MANE Select	NP_004691.2:p.Tyr556Cys
NM_172163.3:c.1505A>G	NP_751895.1:p.Tyr502Cys