Canonical Allele Identifier: CA216326284
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs465394

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2828179C>T , CM000673.2:g.2828179C>T GRCh38
NC_000011.9:g.2849409C>T , CM000673.1:g.2849409C>T GRCh37
NC_000011.8:g.2805985C>T NCBI36
NG_008935.1:g.388189C>T , LRG_287:g.388189C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1438-19588C>T ENSP00000434560.2:n.1438-19588C>T
ENST00000646564.2:c.1255-11537C>T ENSP00000495806.2:n.1255-11537C>T
ENST00000155840.12:c.1795-19588C>T MANE Select ENSP00000155840.2:n.1795-19588C>T
ENST00000335475.6:c.1414-19588C>T ENSP00000334497.5:n.1414-19588C>T
ENST00000526095.2:c.199-19588C>T ENSP00000494939.1:n.199-19588C>T
ENST00000646564.1:c.901-11537C>T ENSP00000495806.1:n.901-11537C>T
ENST00000155840.9:c.1795-19588C>T ENSP00000155840.2:n.1795-19588C>T
ENST00000335475.5:c.1414-19588C>T ENSP00000334497.5:n.1414-19588C>T
ENST00000526095.1:n.302-19588C>T
NM_000218.2:c.1795-19588C>T , LRG_287t1:c.1795-19588C>T NP_000209.2:n.1795-19588C>T
NM_181798.1:c.1414-19588C>T , LRG_287t2:c.1414-19588C>T NP_861463.1:n.1414-19588C>T
NM_000218.3:c.1795-19588C>T MANE Select NP_000209.2:n.1795-19588C>T