Canonical Allele Identifier: CA339891513

Gene: KCNQ4

Linked Data

• MyVariant Identifiers: chr1:g.41304152A>C (hg19) ; chr1:g.40838480A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838480A>C , CM000663.2:g.40838480A>C	GRCh38
NC_000001.10:g.41304152A>C , CM000663.1:g.41304152A>C	GRCh37
NC_000001.9:g.41076739A>C	NCBI36
NG_008139.1:g.59469A>C
NG_008139.2:g.59469A>C
NG_008139.3:g.59694A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.2045A>C MANE Select	ENSP00000262916.6:p.Gln682Pro
ENST00000347132.9:c.2045A>C	ENSP00000262916.6:p.Gln682Pro
ENST00000443478.3:c.1626A>C
ENST00000506017.1:n.1364A>C
ENST00000509682.6:c.1883A>C	ENSP00000423756.2:p.Gln628Pro
NM_004700.3:c.2045A>C	NP_004691.2:p.Gln682Pro
NM_172163.2:c.1883A>C	NP_751895.1:p.Gln628Pro
XM_017002792.1:c.1028A>C	XP_016858281.1:p.Gln343Pro
NM_004700.4:c.2045A>C MANE Select	NP_004691.2:p.Gln682Pro
NM_172163.3:c.1883A>C	NP_751895.1:p.Gln628Pro