Canonical Allele Identifier: CA10604083

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 282152
• ClinVar RCV Id: RCV000381283
• dbSNP Id: rs886042324
• gnomAD v2: 1-41249752-G-T
• gnomAD v3: 1-40784080-G-T
• gnomAD v4: 1-40784080-G-T
• MyVariant Identifiers: chr1:g.41249752G>T (hg19) ; chr1:g.40784080G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784080G>T , CM000663.2:g.40784080G>T	GRCh38
NC_000001.10:g.41249752G>T , CM000663.1:g.41249752G>T	GRCh37
NC_000001.9:g.41022339G>T	NCBI36
NG_008139.1:g.5069G>T
NG_008139.2:g.5069G>T
NG_008139.3:g.5294G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.-14G>T MANE Select	ENSP00000262916.6:n.-14G>T
ENST00000347132.9:c.-14G>T	ENSP00000262916.6:n.-14G>T
NM_004700.3:c.-14G>T	NP_004691.2:n.-14G>T
NM_172163.2:c.-14G>T	NP_751895.1:n.-14G>T
NM_004700.4:c.-14G>T MANE Select	NP_004691.2:n.-14G>T
NM_172163.3:c.-14G>T	NP_751895.1:n.-14G>T