Canonical Allele Identifier: CA339891497

Gene: KCNQ4

Linked Data

• MyVariant Identifiers: chr1:g.41304149C>T (hg19) ; chr1:g.40838477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838477C>T , CM000663.2:g.40838477C>T	GRCh38
NC_000001.10:g.41304149C>T , CM000663.1:g.41304149C>T	GRCh37
NC_000001.9:g.41076736C>T	NCBI36
NG_008139.1:g.59466C>T
NG_008139.2:g.59466C>T
NG_008139.3:g.59691C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.2042C>T MANE Select	ENSP00000262916.6:p.Ala681Val
ENST00000347132.9:c.2042C>T	ENSP00000262916.6:p.Ala681Val
ENST00000443478.3:c.1623C>T
ENST00000506017.1:n.1361C>T
ENST00000509682.6:c.1880C>T	ENSP00000423756.2:p.Ala627Val
NM_004700.3:c.2042C>T	NP_004691.2:p.Ala681Val
NM_172163.2:c.1880C>T	NP_751895.1:p.Ala627Val
XM_017002792.1:c.1025C>T	XP_016858281.1:p.Ala342Val
NM_004700.4:c.2042C>T MANE Select	NP_004691.2:p.Ala681Val
NM_172163.3:c.1880C>T	NP_751895.1:p.Ala627Val