Canonical Allele Identifier: CA216319723
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs994977716
gnomAD v2: 11-2549392-C-G
gnomAD v3: 11-2528162-C-G
gnomAD v4: 11-2528162-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2528162C>G , CM000673.2:g.2528162C>G GRCh38
NC_000011.9:g.2549392C>G , CM000673.1:g.2549392C>G GRCh37
NC_000011.8:g.2505968C>G NCBI36
NG_008935.1:g.88172C>G , LRG_287:g.88172C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.216+144C>G ENSP00000434560.2:n.216+144C>G
ENST00000646564.2:c.477+144C>G ENSP00000495806.2:n.477+144C>G
ENST00000155840.12:c.477+144C>G MANE Select ENSP00000155840.2:n.477+144C>G
ENST00000335475.6:c.96+144C>G ENSP00000334497.5:n.96+144C>G
ENST00000646564.1:c.123+144C>G ENSP00000495806.1:n.123+144C>G
ENST00000155840.9:c.477+144C>G ENSP00000155840.2:n.477+144C>G
ENST00000335475.5:c.96+144C>G ENSP00000334497.5:n.96+144C>G
ENST00000496887.6:c.216+144C>G ENSP00000434560.1:n.216+144C>G
NM_000218.2:c.477+144C>G , LRG_287t1:c.477+144C>G NP_000209.2:n.477+144C>G
NM_181798.1:c.96+144C>G , LRG_287t2:c.96+144C>G NP_861463.1:n.96+144C>G
NM_000218.3:c.477+144C>G MANE Select NP_000209.2:n.477+144C>G