Canonical Allele Identifier: CA339890729

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 2261163
• ClinVar RCV Id: RCV002788742
• dbSNP Id: rs1648873175
• gnomAD v4: 1-40838374-G-A
• MyVariant Identifiers: chr1:g.41304046G>A (hg19) ; chr1:g.40838374G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838374G>A , CM000663.2:g.40838374G>A	GRCh38
NC_000001.10:g.41304046G>A , CM000663.1:g.41304046G>A	GRCh37
NC_000001.9:g.41076633G>A	NCBI36
NG_008139.1:g.59363G>A
NG_008139.2:g.59363G>A
NG_008139.3:g.59588G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1939G>A MANE Select	ENSP00000262916.6:p.Gly647Ser
ENST00000347132.9:c.1939G>A	ENSP00000262916.6:p.Gly647Ser
ENST00000443478.3:c.1520G>A
ENST00000506017.1:n.1258G>A
ENST00000509682.6:c.1777G>A	ENSP00000423756.2:p.Gly593Ser
NM_004700.3:c.1939G>A	NP_004691.2:p.Gly647Ser
NM_172163.2:c.1777G>A	NP_751895.1:p.Gly593Ser
XM_017002792.1:c.922G>A	XP_016858281.1:p.Gly308Ser
NM_004700.4:c.1939G>A MANE Select	NP_004691.2:p.Gly647Ser
NM_172163.3:c.1777G>A	NP_751895.1:p.Gly593Ser