Canonical Allele Identifier: CA934480003

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1846736991
• gnomAD v3: 11-2777793-C-T
• gnomAD v4: 11-2777793-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777793C>T , CM000673.2:g.2777793C>T	GRCh38
NC_000011.9:g.2799023C>T , CM000673.1:g.2799023C>T	GRCh37
NC_000011.8:g.2755599C>T	NCBI36
NG_008935.1:g.337803C>T , LRG_287:g.337803C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1376-183C>T	ENSP00000434560.2:n.1376-183C>T
ENST00000646564.2:c.1193-183C>T	ENSP00000495806.2:n.1193-183C>T
ENST00000155840.12:c.1733-183C>T MANE Select	ENSP00000155840.2:n.1733-183C>T
ENST00000335475.6:c.1352-183C>T	ENSP00000334497.5:n.1352-183C>T
ENST00000526095.2:c.116C>T	ENSP00000494939.1:p.Pro39Leu
ENST00000646564.1:c.839-183C>T	ENSP00000495806.1:n.839-183C>T
ENST00000155840.9:c.1733-183C>T	ENSP00000155840.2:n.1733-183C>T
ENST00000335475.5:c.1352-183C>T	ENSP00000334497.5:n.1352-183C>T
ENST00000526095.1:n.219C>T
NM_000218.2:c.1733-183C>T , LRG_287t1:c.1733-183C>T	NP_000209.2:n.1733-183C>T
NM_181798.1:c.1352-183C>T , LRG_287t2:c.1352-183C>T	NP_861463.1:n.1352-183C>T
NM_000218.3:c.1733-183C>T MANE Select	NP_000209.2:n.1733-183C>T