Canonical Allele Identifier: CA674868650

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1228062540
• gnomAD v3: 11-2463516-C-T
• gnomAD v4: 11-2463516-C-T
• MyVariant Identifiers: chr11:g.2484746C>T (hg19) ; chr11:g.2463516C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2463516C>T , CM000673.2:g.2463516C>T	GRCh38
NC_000011.9:g.2484746C>T , CM000673.1:g.2484746C>T	GRCh37
NC_000011.8:g.2441322C>T	NCBI36
NG_008935.1:g.23526C>T , LRG_287:g.23526C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.91+1539C>T
ENST00000496887.7:c.125+18032C>T	ENSP00000434560.2:n.125+18032C>T
ENST00000646564.2:c.386+18032C>T	ENSP00000495806.2:n.386+18032C>T
ENST00000155840.12:c.386+18032C>T MANE Select	ENSP00000155840.2:n.386+18032C>T
ENST00000335475.6:c.5+1802C>T	ENSP00000334497.5:n.5+1802C>T
ENST00000646564.1:c.32+18032C>T	ENSP00000495806.1:n.32+18032C>T
ENST00000155840.9:c.386+18032C>T	ENSP00000155840.2:n.386+18032C>T
ENST00000335475.5:c.5+1802C>T	ENSP00000334497.5:n.5+1802C>T
ENST00000345015.4:n.163+18032C>T
ENST00000380776.4:c.84+1539C>T	ENSP00000370153.4:n.84+1539C>T
ENST00000496887.6:c.125+18032C>T	ENSP00000434560.1:n.125+18032C>T
NM_000218.2:c.386+18032C>T , LRG_287t1:c.386+18032C>T	NP_000209.2:n.386+18032C>T
NM_181798.1:c.5+1802C>T , LRG_287t2:c.5+1802C>T	NP_861463.1:n.5+1802C>T
NM_000218.3:c.386+18032C>T MANE Select	NP_000209.2:n.386+18032C>T