Canonical Allele Identifier: CA339890731

Gene: KCNQ4

Linked Data

• MyVariant Identifiers: chr1:g.41304046G>C (hg19) ; chr1:g.40838374G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838374G>C , CM000663.2:g.40838374G>C	GRCh38
NC_000001.10:g.41304046G>C , CM000663.1:g.41304046G>C	GRCh37
NC_000001.9:g.41076633G>C	NCBI36
NG_008139.1:g.59363G>C
NG_008139.2:g.59363G>C
NG_008139.3:g.59588G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1939G>C MANE Select	ENSP00000262916.6:p.Gly647Arg
ENST00000347132.9:c.1939G>C	ENSP00000262916.6:p.Gly647Arg
ENST00000443478.3:c.1520G>C
ENST00000506017.1:n.1258G>C
ENST00000509682.6:c.1777G>C	ENSP00000423756.2:p.Gly593Arg
NM_004700.3:c.1939G>C	NP_004691.2:p.Gly647Arg
NM_172163.2:c.1777G>C	NP_751895.1:p.Gly593Arg
XM_017002792.1:c.922G>C	XP_016858281.1:p.Gly308Arg
NM_004700.4:c.1939G>C MANE Select	NP_004691.2:p.Gly647Arg
NM_172163.3:c.1777G>C	NP_751895.1:p.Gly593Arg