Canonical Allele Identifier: CA417357572

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1172914234
• gnomAD v2: 1-41285051-G-A
• gnomAD v3: 1-40819379-G-A
• gnomAD v4: 1-40819379-G-A
• MyVariant Identifiers: chr1:g.41285051G>A (hg19) ; chr1:g.40819379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819379G>A , CM000663.2:g.40819379G>A	GRCh38
NC_000001.10:g.41285051G>A , CM000663.1:g.41285051G>A	GRCh37
NC_000001.9:g.41057638G>A	NCBI36
NG_008139.1:g.40368G>A
NG_008139.2:g.40368G>A
NG_008139.3:g.40593G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.741G>A MANE Select	ENSP00000262916.6:p.Leu247=
ENST00000347132.9:c.741G>A	ENSP00000262916.6:p.Leu247=
ENST00000443478.3:c.427G>A
ENST00000506017.1:n.60G>A
ENST00000509682.6:c.741G>A	ENSP00000423756.2:p.Leu247=
NM_004700.3:c.741G>A	NP_004691.2:p.Leu247=
NM_172163.2:c.741G>A	NP_751895.1:p.Leu247=
XM_011542417.1:c.741G>A	XP_011540719.1:p.Leu247=
XM_011542418.1:c.741G>A	XP_011540720.1:p.Leu247=
XM_011542419.1:c.741G>A	XP_011540721.1:p.Leu247=
XM_011542420.1:c.741G>A	XP_011540722.1:p.Leu247=
XR_946798.1:n.747G>A
XR_946799.1:n.747G>A
XR_946800.1:n.747G>A
XM_017002792.1:c.-277G>A	XP_016858281.1:n.-277G>A
NM_004700.4:c.741G>A MANE Select	NP_004691.2:p.Leu247=
NM_172163.3:c.741G>A	NP_751895.1:p.Leu247=