Canonical Allele Identifier: CA339891483

Gene: KCNQ4

Linked Data

• MyVariant Identifiers: chr1:g.41304148G>C (hg19) ; chr1:g.40838476G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838476G>C , CM000663.2:g.40838476G>C	GRCh38
NC_000001.10:g.41304148G>C , CM000663.1:g.41304148G>C	GRCh37
NC_000001.9:g.41076735G>C	NCBI36
NG_008139.1:g.59465G>C
NG_008139.2:g.59465G>C
NG_008139.3:g.59690G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.2041G>C MANE Select	ENSP00000262916.6:p.Ala681Pro
ENST00000347132.9:c.2041G>C	ENSP00000262916.6:p.Ala681Pro
ENST00000443478.3:c.1622G>C
ENST00000506017.1:n.1360G>C
ENST00000509682.6:c.1879G>C	ENSP00000423756.2:p.Ala627Pro
NM_004700.3:c.2041G>C	NP_004691.2:p.Ala681Pro
NM_172163.2:c.1879G>C	NP_751895.1:p.Ala627Pro
XM_017002792.1:c.1024G>C	XP_016858281.1:p.Ala342Pro
NM_004700.4:c.2041G>C MANE Select	NP_004691.2:p.Ala681Pro
NM_172163.3:c.1879G>C	NP_751895.1:p.Ala627Pro