Canonical Allele Identifier: CA675200742
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1385538594
gnomAD v3: 11-2847691-A-G
gnomAD v4: 11-2847691-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847691A>G , CM000673.2:g.2847691A>G GRCh38
NC_000011.9:g.2868921A>G , CM000673.1:g.2868921A>G GRCh37
NC_000011.8:g.2825497A>G NCBI36
NG_008935.1:g.407701A>G , LRG_287:g.407701A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1438-76A>G (KCNQ1) ENSP00000434560.2:n.1438-76A>G
ENST00000155840.12:c.1795-76A>G (KCNQ1) MANE Select ENSP00000155840.2:n.1795-76A>G
ENST00000335475.6:c.1414-76A>G (KCNQ1) ENSP00000334497.5:n.1414-76A>G
ENST00000526095.2:c.199-76A>G (KCNQ1) ENSP00000494939.1:n.199-76A>G
ENST00000155840.9:c.1795-76A>G (KCNQ1) ENSP00000155840.2:n.1795-76A>G
ENST00000335475.5:c.1414-76A>G (KCNQ1) ENSP00000334497.5:n.1414-76A>G
ENST00000526095.1:n.302-76A>G (KCNQ1)
NM_000218.2:c.1795-76A>G , LRG_287t1:c.1795-76A>G (KCNQ1) NP_000209.2:n.1795-76A>G
NM_181798.1:c.1414-76A>G , LRG_287t2:c.1414-76A>G (KCNQ1) NP_861463.1:n.1414-76A>G
NR_130721.1:n.778-7249T>C (KCNQ1-AS1)
NM_000218.3:c.1795-76A>G (KCNQ1) MANE Select NP_000209.2:n.1795-76A>G