Canonical Allele Identifier: CA1948336825
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1006722193

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2823086T>C , CM000673.2:g.2823086T>C GRCh38
NC_000011.9:g.2844316T>C , CM000673.1:g.2844316T>C GRCh37
NC_000011.8:g.2800892T>C NCBI36
NG_008935.1:g.383096T>C , LRG_287:g.383096T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1438-24681T>C ENSP00000434560.2:n.1438-24681T>C
ENST00000646564.2:c.1255-16630T>C ENSP00000495806.2:n.1255-16630T>C
ENST00000155840.12:c.1795-24681T>C MANE Select ENSP00000155840.2:n.1795-24681T>C
ENST00000335475.6:c.1414-24681T>C ENSP00000334497.5:n.1414-24681T>C
ENST00000526095.2:c.199-24681T>C ENSP00000494939.1:n.199-24681T>C
ENST00000646564.1:c.901-16630T>C ENSP00000495806.1:n.901-16630T>C
ENST00000155840.9:c.1795-24681T>C ENSP00000155840.2:n.1795-24681T>C
ENST00000335475.5:c.1414-24681T>C ENSP00000334497.5:n.1414-24681T>C
ENST00000526095.1:n.302-24681T>C
NM_000218.2:c.1795-24681T>C , LRG_287t1:c.1795-24681T>C NP_000209.2:n.1795-24681T>C
NM_181798.1:c.1414-24681T>C , LRG_287t2:c.1414-24681T>C NP_861463.1:n.1414-24681T>C
NM_000218.3:c.1795-24681T>C MANE Select NP_000209.2:n.1795-24681T>C