Canonical Allele Identifier: CA135534

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 45104
• ClinVar RCV Id: RCV000038246 ; RCV000606323 ; RCV001618230
• dbSNP Id: rs2361660
• ExAC: 1:41284366 G / C
• gnomAD v2: 1-41284366-G-C
• gnomAD v3: 1-40818694-G-C
• gnomAD v4: 1-40818694-G-C
• MyVariant Identifiers: chr1:g.41284366G>C (hg19) ; chr1:g.40818694G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40818694G>C , CM000663.2:g.40818694G>C	GRCh38
NC_000001.10:g.41284366G>C , CM000663.1:g.41284366G>C	GRCh37
NC_000001.9:g.41056953G>C	NCBI36
NG_008139.1:g.39683G>C
NG_008139.2:g.39683G>C
NG_008139.3:g.39908G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.708+14G>C MANE Select	ENSP00000262916.6:n.708+14G>C
ENST00000347132.9:c.708+14G>C	ENSP00000262916.6:n.708+14G>C
ENST00000443478.3:c.394+14G>C
ENST00000509682.6:c.708+14G>C	ENSP00000423756.2:n.708+14G>C
NM_004700.3:c.708+14G>C	NP_004691.2:n.708+14G>C
NM_172163.2:c.708+14G>C	NP_751895.1:n.708+14G>C
XM_011542417.1:c.708+14G>C	XP_011540719.1:n.708+14G>C
XM_011542418.1:c.708+14G>C	XP_011540720.1:n.708+14G>C
XM_011542419.1:c.708+14G>C	XP_011540721.1:n.708+14G>C
XM_011542420.1:c.708+14G>C	XP_011540722.1:n.708+14G>C
XR_946798.1:n.714+14G>C
XR_946799.1:n.714+14G>C
XR_946800.1:n.714+14G>C
NM_004700.4:c.708+14G>C MANE Select	NP_004691.2:n.708+14G>C
NM_172163.3:c.708+14G>C	NP_751895.1:n.708+14G>C