Canonical Allele Identifier: CA21083047

Gene: KCNQ4

Linked Data

• dbSNP Id: rs567282718
• gnomAD v2: 1-41296538-T-C
• gnomAD v3: 1-40830866-T-C
• gnomAD v4: 1-40830866-T-C
• MyVariant Identifiers: chr1:g.41296538T>C (hg19) ; chr1:g.40830866T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830866T>C , CM000663.2:g.40830866T>C	GRCh38
NC_000001.10:g.41296538T>C , CM000663.1:g.41296538T>C	GRCh37
NC_000001.9:g.41069125T>C	NCBI36
NG_008139.1:g.51855T>C
NG_008139.2:g.51855T>C
NG_008139.3:g.52080T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-218T>C MANE Select	ENSP00000262916.6:n.1293-218T>C
ENST00000347132.9:c.1293-218T>C	ENSP00000262916.6:n.1293-218T>C
ENST00000443478.3:c.874-218T>C
ENST00000506017.1:n.612-218T>C
ENST00000509682.6:c.1131-218T>C	ENSP00000423756.2:n.1131-218T>C
NM_004700.3:c.1293-218T>C	NP_004691.2:n.1293-218T>C
NM_172163.2:c.1131-218T>C	NP_751895.1:n.1131-218T>C
XM_011542418.1:c.*19T>C	XP_011540720.1:n.*19T>C
XR_946798.1:n.1299-218T>C
XR_946799.1:n.1299-218T>C
XR_946800.1:n.1048-218T>C
XM_017002792.1:c.276-218T>C	XP_016858281.1:n.276-218T>C
NM_004700.4:c.1293-218T>C MANE Select	NP_004691.2:n.1293-218T>C
NM_172163.3:c.1131-218T>C	NP_751895.1:n.1131-218T>C