Canonical Allele Identifier: CA417357659

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40819454-C-T
• MyVariant Identifiers: chr1:g.41285126C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819454C>T , CM000663.2:g.40819454C>T	GRCh38
NC_000001.10:g.41285126C>T , CM000663.1:g.41285126C>T	GRCh37
NC_000001.9:g.41057713C>T	NCBI36
NG_008139.1:g.40443C>T
NG_008139.2:g.40443C>T
NG_008139.3:g.40668C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.816C>T MANE Select	ENSP00000262916.6:p.Asp272=
ENST00000347132.9:c.816C>T	ENSP00000262916.6:p.Asp272=
ENST00000443478.3:c.502C>T
ENST00000506017.1:n.135C>T
ENST00000509682.6:c.816C>T	ENSP00000423756.2:p.Asp272=
NM_004700.3:c.816C>T	NP_004691.2:p.Asp272=
NM_172163.2:c.816C>T	NP_751895.1:p.Asp272=
XM_011542417.1:c.816C>T	XP_011540719.1:p.Asp272=
XM_011542418.1:c.816C>T	XP_011540720.1:p.Asp272=
XM_011542419.1:c.816C>T	XP_011540721.1:p.Asp272=
XM_011542420.1:c.816C>T	XP_011540722.1:p.Asp272=
XR_946798.1:n.822C>T
XR_946799.1:n.822C>T
XR_946800.1:n.822C>T
XM_017002792.1:c.-202C>T	XP_016858281.1:n.-202C>T
NM_004700.4:c.816C>T MANE Select	NP_004691.2:p.Asp272=
NM_172163.3:c.816C>T	NP_751895.1:p.Asp272=