Canonical Allele Identifier: CA032451

Gene: KCNQ1

Linked Data

• dbSNP Id: rs200967728
• ExAC: 11:2799174 T / G
• gnomAD v2: 11-2799174-T-G
• gnomAD v3: 11-2777944-T-G
• gnomAD v4: 11-2777944-T-G
• MyVariant Identifiers: chr11:g.2799174T>G (hg19) ; chr11:g.2777944T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777944T>G , CM000673.2:g.2777944T>G	GRCh38
NC_000011.9:g.2799174T>G , CM000673.1:g.2799174T>G	GRCh37
NC_000011.8:g.2755750T>G	NCBI36
NG_008935.1:g.337954T>G , LRG_287:g.337954T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1376-32T>G	ENSP00000434560.2:n.1376-32T>G
ENST00000646564.2:c.1193-32T>G	ENSP00000495806.2:n.1193-32T>G
ENST00000155840.12:c.1733-32T>G MANE Select	ENSP00000155840.2:n.1733-32T>G
ENST00000335475.6:c.1352-32T>G	ENSP00000334497.5:n.1352-32T>G
ENST00000526095.2:c.137-32T>G	ENSP00000494939.1:n.137-32T>G
ENST00000646564.1:c.839-32T>G	ENSP00000495806.1:n.839-32T>G
ENST00000155840.9:c.1733-32T>G	ENSP00000155840.2:n.1733-32T>G
ENST00000335475.5:c.1352-32T>G	ENSP00000334497.5:n.1352-32T>G
ENST00000526095.1:n.240-32T>G
NM_000218.2:c.1733-32T>G , LRG_287t1:c.1733-32T>G	NP_000209.2:n.1733-32T>G
NM_181798.1:c.1352-32T>G , LRG_287t2:c.1352-32T>G	NP_861463.1:n.1352-32T>G
NM_000218.3:c.1733-32T>G MANE Select	NP_000209.2:n.1733-32T>G