Canonical Allele Identifier: CA176471

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 163750
• ClinVar RCV Id: RCV000150876 ; RCV000906649 ; RCV003445561
• dbSNP Id: rs137896524
• ExAC: 1:41285863 G / A
• gnomAD v2: 1-41285863-G-A
• gnomAD v3: 1-40820191-G-A
• gnomAD v4: 1-40820191-G-A
• MyVariant Identifiers: chr1:g.41285863G>A (hg19) ; chr1:g.40820191G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40820191G>A , CM000663.2:g.40820191G>A	GRCh38
NC_000001.10:g.41285863G>A , CM000663.1:g.41285863G>A	GRCh37
NC_000001.9:g.41058450G>A	NCBI36
NG_008139.1:g.41180G>A
NG_008139.2:g.41180G>A
NG_008139.3:g.41405G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.972G>A MANE Select	ENSP00000262916.6:p.Leu324=
ENST00000347132.9:c.972G>A	ENSP00000262916.6:p.Leu324=
ENST00000443478.3:c.658G>A
ENST00000506017.1:n.291G>A
ENST00000509682.6:c.972G>A	ENSP00000423756.2:p.Leu324=
NM_004700.3:c.972G>A	NP_004691.2:p.Leu324=
NM_172163.2:c.972G>A	NP_751895.1:p.Leu324=
XM_011542417.1:c.972G>A	XP_011540719.1:p.Leu324=
XM_011542418.1:c.972G>A	XP_011540720.1:p.Leu324=
XM_011542419.1:c.972G>A	XP_011540721.1:p.Leu324=
XM_011542420.1:c.972G>A	XP_011540722.1:p.Leu324=
XR_946798.1:n.978G>A
XR_946799.1:n.978G>A
XR_946800.1:n.978G>A
XM_017002792.1:c.-46G>A	XP_016858281.1:n.-46G>A
NM_004700.4:c.972G>A MANE Select	NP_004691.2:p.Leu324=
NM_172163.3:c.972G>A	NP_751895.1:p.Leu324=