Canonical Allele Identifier: CA339895978
Gene: KCNQ4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.41285603G>C (hg19) chr1:g.40819931G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40819931G>C , CM000663.2:g.40819931G>C GRCh38
NC_000001.10:g.41285603G>C , CM000663.1:g.41285603G>C GRCh37
NC_000001.9:g.41058190G>C NCBI36
NG_008139.1:g.40920G>C
NG_008139.2:g.40920G>C
NG_008139.3:g.41145G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.891G>C MANE Select ENSP00000262916.6:p.Arg297Ser
ENST00000347132.9:c.891G>C ENSP00000262916.6:p.Arg297Ser
ENST00000443478.3:c.577G>C
ENST00000506017.1:n.210G>C
ENST00000509682.6:c.891G>C ENSP00000423756.2:p.Arg297Ser
NM_004700.3:c.891G>C NP_004691.2:p.Arg297Ser
NM_172163.2:c.891G>C NP_751895.1:p.Arg297Ser
XM_011542417.1:c.891G>C XP_011540719.1:p.Arg297Ser
XM_011542418.1:c.891G>C XP_011540720.1:p.Arg297Ser
XM_011542419.1:c.891G>C XP_011540721.1:p.Arg297Ser
XM_011542420.1:c.891G>C XP_011540722.1:p.Arg297Ser
XR_946798.1:n.897G>C
XR_946799.1:n.897G>C
XR_946800.1:n.897G>C
XM_017002792.1:c.-127G>C XP_016858281.1:n.-127G>C
NM_004700.4:c.891G>C MANE Select NP_004691.2:p.Arg297Ser
NM_172163.3:c.891G>C NP_751895.1:p.Arg297Ser
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