Canonical Allele Identifier: CA675198195
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1277214572

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2777949C>G , CM000673.2:g.2777949C>G GRCh38
NC_000011.9:g.2799179C>G , CM000673.1:g.2799179C>G GRCh37
NC_000011.8:g.2755755C>G NCBI36
NG_008935.1:g.337959C>G , LRG_287:g.337959C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1376-27C>G ENSP00000434560.2:n.1376-27C>G
ENST00000646564.2:c.1193-27C>G ENSP00000495806.2:n.1193-27C>G
ENST00000155840.12:c.1733-27C>G MANE Select ENSP00000155840.2:n.1733-27C>G
ENST00000335475.6:c.1352-27C>G ENSP00000334497.5:n.1352-27C>G
ENST00000526095.2:c.137-27C>G ENSP00000494939.1:n.137-27C>G
ENST00000646564.1:c.839-27C>G ENSP00000495806.1:n.839-27C>G
ENST00000155840.9:c.1733-27C>G ENSP00000155840.2:n.1733-27C>G
ENST00000335475.5:c.1352-27C>G ENSP00000334497.5:n.1352-27C>G
ENST00000526095.1:n.240-27C>G
NM_000218.2:c.1733-27C>G , LRG_287t1:c.1733-27C>G NP_000209.2:n.1733-27C>G
NM_181798.1:c.1352-27C>G , LRG_287t2:c.1352-27C>G NP_861463.1:n.1352-27C>G
NM_000218.3:c.1733-27C>G MANE Select NP_000209.2:n.1733-27C>G