Canonical Allele Identifier: CA16042364

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 372951
• ClinVar RCV Id: RCV000412910
• dbSNP Id: rs1057518095
• MyVariant Identifiers: chr1:g.41285134G>C (hg19) ; chr1:g.40819462G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819462G>C , CM000663.2:g.40819462G>C	GRCh38
NC_000001.10:g.41285134G>C , CM000663.1:g.41285134G>C	GRCh37
NC_000001.9:g.41057721G>C	NCBI36
NG_008139.1:g.40451G>C
NG_008139.2:g.40451G>C
NG_008139.3:g.40676G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.824G>C MANE Select	ENSP00000262916.6:p.Trp275Ser
ENST00000347132.9:c.824G>C	ENSP00000262916.6:p.Trp275Ser
ENST00000443478.3:c.510G>C
ENST00000506017.1:n.143G>C
ENST00000509682.6:c.824G>C	ENSP00000423756.2:p.Trp275Ser
NM_004700.3:c.824G>C	NP_004691.2:p.Trp275Ser
NM_172163.2:c.824G>C	NP_751895.1:p.Trp275Ser
XM_011542417.1:c.824G>C	XP_011540719.1:p.Trp275Ser
XM_011542418.1:c.824G>C	XP_011540720.1:p.Trp275Ser
XM_011542419.1:c.824G>C	XP_011540721.1:p.Trp275Ser
XM_011542420.1:c.824G>C	XP_011540722.1:p.Trp275Ser
XR_946798.1:n.830G>C
XR_946799.1:n.830G>C
XR_946800.1:n.830G>C
XM_017002792.1:c.-194G>C	XP_016858281.1:n.-194G>C
NM_004700.4:c.824G>C MANE Select	NP_004691.2:p.Trp275Ser
NM_172163.3:c.824G>C	NP_751895.1:p.Trp275Ser