Canonical Allele Identifier: CA794442

Gene: KCNQ4

Linked Data

• dbSNP Id: rs770609353
• ExAC: 1:41249835 G / C
• gnomAD v2: 1-41249835-G-C
• gnomAD v3: 1-40784163-G-C
• gnomAD v4: 1-40784163-G-C
• MyVariant Identifiers: chr1:g.41249835G>C (hg19) ; chr1:g.40784163G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784163G>C , CM000663.2:g.40784163G>C	GRCh38
NC_000001.10:g.41249835G>C , CM000663.1:g.41249835G>C	GRCh37
NC_000001.9:g.41022422G>C	NCBI36
NG_008139.1:g.5152G>C
NG_008139.2:g.5152G>C
NG_008139.3:g.5377G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.70G>C MANE Select	ENSP00000262916.6:p.Val24Leu
ENST00000347132.9:c.70G>C	ENSP00000262916.6:p.Val24Leu
ENST00000509682.6:c.70G>C	ENSP00000423756.2:p.Val24Leu
NM_004700.3:c.70G>C	NP_004691.2:p.Val24Leu
NM_172163.2:c.70G>C	NP_751895.1:p.Val24Leu
XM_011542417.1:c.70G>C	XP_011540719.1:p.Val24Leu
XM_011542418.1:c.70G>C	XP_011540720.1:p.Val24Leu
XM_011542419.1:c.70G>C	XP_011540721.1:p.Val24Leu
XM_011542420.1:c.70G>C	XP_011540722.1:p.Val24Leu
XR_946798.1:n.76G>C
XR_946799.1:n.76G>C
XR_946800.1:n.76G>C
NM_004700.4:c.70G>C MANE Select	NP_004691.2:p.Val24Leu
NM_172163.3:c.70G>C	NP_751895.1:p.Val24Leu