Canonical Allele Identifier: CA339885158

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40784242-G-T
• MyVariant Identifiers: chr1:g.41249914G>T (hg19) ; chr1:g.40784242G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784242G>T , CM000663.2:g.40784242G>T	GRCh38
NC_000001.10:g.41249914G>T , CM000663.1:g.41249914G>T	GRCh37
NC_000001.9:g.41022501G>T	NCBI36
NG_008139.1:g.5231G>T
NG_008139.2:g.5231G>T
NG_008139.3:g.5456G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.149G>T MANE Select	ENSP00000262916.6:p.Ser50Ile
ENST00000347132.9:c.149G>T	ENSP00000262916.6:p.Ser50Ile
ENST00000509682.6:c.149G>T	ENSP00000423756.2:p.Ser50Ile
NM_004700.3:c.149G>T	NP_004691.2:p.Ser50Ile
NM_172163.2:c.149G>T	NP_751895.1:p.Ser50Ile
XM_011542417.1:c.149G>T	XP_011540719.1:p.Ser50Ile
XM_011542418.1:c.149G>T	XP_011540720.1:p.Ser50Ile
XM_011542419.1:c.149G>T	XP_011540721.1:p.Ser50Ile
XM_011542420.1:c.149G>T	XP_011540722.1:p.Ser50Ile
XR_946798.1:n.155G>T
XR_946799.1:n.155G>T
XR_946800.1:n.155G>T
NM_004700.4:c.149G>T MANE Select	NP_004691.2:p.Ser50Ile
NM_172163.3:c.149G>T	NP_751895.1:p.Ser50Ile