Canonical Allele Identifier: CA339884814

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40784112-C-T
• MyVariant Identifiers: chr1:g.41249784C>T (hg19) ; chr1:g.40784112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784112C>T , CM000663.2:g.40784112C>T	GRCh38
NC_000001.10:g.41249784C>T , CM000663.1:g.41249784C>T	GRCh37
NC_000001.9:g.41022371C>T	NCBI36
NG_008139.1:g.5101C>T
NG_008139.2:g.5101C>T
NG_008139.3:g.5326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.19C>T MANE Select	ENSP00000262916.6:p.Arg7Cys
ENST00000347132.9:c.19C>T	ENSP00000262916.6:p.Arg7Cys
ENST00000509682.6:c.19C>T	ENSP00000423756.2:p.Arg7Cys
NM_004700.3:c.19C>T	NP_004691.2:p.Arg7Cys
NM_172163.2:c.19C>T	NP_751895.1:p.Arg7Cys
XM_011542417.1:c.19C>T	XP_011540719.1:p.Arg7Cys
XM_011542418.1:c.19C>T	XP_011540720.1:p.Arg7Cys
XM_011542419.1:c.19C>T	XP_011540721.1:p.Arg7Cys
XM_011542420.1:c.19C>T	XP_011540722.1:p.Arg7Cys
XR_946798.1:n.25C>T
XR_946799.1:n.25C>T
XR_946800.1:n.25C>T
NM_004700.4:c.19C>T MANE Select	NP_004691.2:p.Arg7Cys
NM_172163.3:c.19C>T	NP_751895.1:p.Arg7Cys