Canonical Allele Identifier: CA339888180

Gene: KCNQ4

Linked Data

• MyVariant Identifiers: chr1:g.41300692A>C (hg19) ; chr1:g.40835020A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1667A>C MANE Select	ENSP00000262916.6:p.Tyr556Ser
ENST00000347132.9:c.1667A>C	ENSP00000262916.6:p.Tyr556Ser
ENST00000443478.3:c.1248A>C
ENST00000506017.1:n.986A>C
ENST00000509682.6:c.1505A>C	ENSP00000423756.2:p.Tyr502Ser
NM_004700.3:c.1667A>C	NP_004691.2:p.Tyr556Ser
NM_172163.2:c.1505A>C	NP_751895.1:p.Tyr502Ser
XR_946798.1:n.1689A>C
XR_946799.1:n.1689A>C
XR_946800.1:n.1422A>C
XM_017002792.1:c.650A>C	XP_016858281.1:p.Tyr217Ser
NM_004700.4:c.1667A>C MANE Select	NP_004691.2:p.Tyr556Ser
NM_172163.3:c.1505A>C	NP_751895.1:p.Tyr502Ser