Canonical Allele Identifier: CA522803441

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1433503185
• gnomAD v2: 1-41249707-G-A
• gnomAD v3: 1-40784035-G-A
• gnomAD v4: 1-40784035-G-A
• MyVariant Identifiers: chr1:g.41249707G>A (hg19) ; chr1:g.40784035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784035G>A , CM000663.2:g.40784035G>A	GRCh38
NC_000001.10:g.41249707G>A , CM000663.1:g.41249707G>A	GRCh37
NC_000001.9:g.41022294G>A	NCBI36
NG_008139.1:g.5024G>A
NG_008139.2:g.5024G>A
NG_008139.3:g.5249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.-59G>A MANE Select	ENSP00000262916.6:n.-59G>A
ENST00000347132.9:c.-59G>A	ENSP00000262916.6:n.-59G>A
NM_004700.3:c.-59G>A	NP_004691.2:n.-59G>A
NM_172163.2:c.-59G>A	NP_751895.1:n.-59G>A
NM_004700.4:c.-59G>A MANE Select	NP_004691.2:n.-59G>A
NM_172163.3:c.-59G>A	NP_751895.1:n.-59G>A