Canonical Allele Identifier: CA794640

Gene: KCNQ4

Linked Data

• dbSNP Id: rs776159608
• ExAC: 1:41285129 G / T
• gnomAD v2: 1-41285129-G-T
• gnomAD v4: 1-40819457-G-T
• MyVariant Identifiers: chr1:g.41285129G>T (hg19) ; chr1:g.40819457G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819457G>T , CM000663.2:g.40819457G>T	GRCh38
NC_000001.10:g.41285129G>T , CM000663.1:g.41285129G>T	GRCh37
NC_000001.9:g.41057716G>T	NCBI36
NG_008139.1:g.40446G>T
NG_008139.2:g.40446G>T
NG_008139.3:g.40671G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.819G>T MANE Select	ENSP00000262916.6:p.Ser273=
ENST00000347132.9:c.819G>T	ENSP00000262916.6:p.Ser273=
ENST00000443478.3:c.505G>T
ENST00000506017.1:n.138G>T
ENST00000509682.6:c.819G>T	ENSP00000423756.2:p.Ser273=
NM_004700.3:c.819G>T	NP_004691.2:p.Ser273=
NM_172163.2:c.819G>T	NP_751895.1:p.Ser273=
XM_011542417.1:c.819G>T	XP_011540719.1:p.Ser273=
XM_011542418.1:c.819G>T	XP_011540720.1:p.Ser273=
XM_011542419.1:c.819G>T	XP_011540721.1:p.Ser273=
XM_011542420.1:c.819G>T	XP_011540722.1:p.Ser273=
XR_946798.1:n.825G>T
XR_946799.1:n.825G>T
XR_946800.1:n.825G>T
XM_017002792.1:c.-199G>T	XP_016858281.1:n.-199G>T
NM_004700.4:c.819G>T MANE Select	NP_004691.2:p.Ser273=
NM_172163.3:c.819G>T	NP_751895.1:p.Ser273=