Canonical Allele Identifier: CA794638

Gene: KCNQ4

Linked Data

• dbSNP Id: rs775122297
• ExAC: 1:41285123 C / T
• gnomAD v2: 1-41285123-C-T
• gnomAD v4: 1-40819451-C-T
• MyVariant Identifiers: chr1:g.41285123C>T (hg19) ; chr1:g.40819451C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819451C>T , CM000663.2:g.40819451C>T	GRCh38
NC_000001.10:g.41285123C>T , CM000663.1:g.41285123C>T	GRCh37
NC_000001.9:g.41057710C>T	NCBI36
NG_008139.1:g.40440C>T
NG_008139.2:g.40440C>T
NG_008139.3:g.40665C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.813C>T MANE Select	ENSP00000262916.6:p.Ala271=
ENST00000347132.9:c.813C>T	ENSP00000262916.6:p.Ala271=
ENST00000443478.3:c.499C>T
ENST00000506017.1:n.132C>T
ENST00000509682.6:c.813C>T	ENSP00000423756.2:p.Ala271=
NM_004700.3:c.813C>T	NP_004691.2:p.Ala271=
NM_172163.2:c.813C>T	NP_751895.1:p.Ala271=
XM_011542417.1:c.813C>T	XP_011540719.1:p.Ala271=
XM_011542418.1:c.813C>T	XP_011540720.1:p.Ala271=
XM_011542419.1:c.813C>T	XP_011540721.1:p.Ala271=
XM_011542420.1:c.813C>T	XP_011540722.1:p.Ala271=
XR_946798.1:n.819C>T
XR_946799.1:n.819C>T
XR_946800.1:n.819C>T
XM_017002792.1:c.-205C>T	XP_016858281.1:n.-205C>T
NM_004700.4:c.813C>T MANE Select	NP_004691.2:p.Ala271=
NM_172163.3:c.813C>T	NP_751895.1:p.Ala271=