Canonical Allele Identifier: CA339885419

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40784373-C-G
• MyVariant Identifiers: chr1:g.41250045C>G (hg19) ; chr1:g.40784373C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784373C>G , CM000663.2:g.40784373C>G	GRCh38
NC_000001.10:g.41250045C>G , CM000663.1:g.41250045C>G	GRCh37
NC_000001.9:g.41022632C>G	NCBI36
NG_008139.1:g.5362C>G
NG_008139.2:g.5362C>G
NG_008139.3:g.5587C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.280C>G MANE Select	ENSP00000262916.6:p.Pro94Ala
ENST00000347132.9:c.280C>G	ENSP00000262916.6:p.Pro94Ala
ENST00000509682.6:c.280C>G	ENSP00000423756.2:p.Pro94Ala
NM_004700.3:c.280C>G	NP_004691.2:p.Pro94Ala
NM_172163.2:c.280C>G	NP_751895.1:p.Pro94Ala
XM_011542417.1:c.280C>G	XP_011540719.1:p.Pro94Ala
XM_011542418.1:c.280C>G	XP_011540720.1:p.Pro94Ala
XM_011542419.1:c.280C>G	XP_011540721.1:p.Pro94Ala
XM_011542420.1:c.280C>G	XP_011540722.1:p.Pro94Ala
XR_946798.1:n.286C>G
XR_946799.1:n.286C>G
XR_946800.1:n.286C>G
NM_004700.4:c.280C>G MANE Select	NP_004691.2:p.Pro94Ala
NM_172163.3:c.280C>G	NP_751895.1:p.Pro94Ala