Canonical Allele Identifier: CA216321858
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs978912613

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2777814G>T , CM000673.2:g.2777814G>T GRCh38
NC_000011.9:g.2799044G>T , CM000673.1:g.2799044G>T GRCh37
NC_000011.8:g.2755620G>T NCBI36
NG_008935.1:g.337824G>T , LRG_287:g.337824G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1376-162G>T ENSP00000434560.2:n.1376-162G>T
ENST00000646564.2:c.1193-162G>T ENSP00000495806.2:n.1193-162G>T
ENST00000155840.12:c.1733-162G>T MANE Select ENSP00000155840.2:n.1733-162G>T
ENST00000335475.6:c.1352-162G>T ENSP00000334497.5:n.1352-162G>T
ENST00000526095.2:c.136+1G>T ENSP00000494939.1:n.136+1G>T
ENST00000646564.1:c.839-162G>T ENSP00000495806.1:n.839-162G>T
ENST00000155840.9:c.1733-162G>T ENSP00000155840.2:n.1733-162G>T
ENST00000335475.5:c.1352-162G>T ENSP00000334497.5:n.1352-162G>T
ENST00000526095.1:n.239+1G>T
NM_000218.2:c.1733-162G>T , LRG_287t1:c.1733-162G>T NP_000209.2:n.1733-162G>T
NM_181798.1:c.1352-162G>T , LRG_287t2:c.1352-162G>T NP_861463.1:n.1352-162G>T
NM_000218.3:c.1733-162G>T MANE Select NP_000209.2:n.1733-162G>T