Canonical Allele Identifier: CA934476671

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1846547660
• gnomAD v3: 11-2769132-C-T
• gnomAD v4: 11-2769132-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2769132C>T , CM000673.2:g.2769132C>T	GRCh38
NC_000011.9:g.2790362C>T , CM000673.1:g.2790362C>T	GRCh37
NC_000011.8:g.2746938C>T	NCBI36
NG_008935.1:g.329142C>T , LRG_287:g.329142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+213C>T	ENSP00000434560.2:n.1233+213C>T
ENST00000646564.2:c.1050+213C>T	ENSP00000495806.2:n.1050+213C>T
ENST00000155840.12:c.1590+213C>T MANE Select	ENSP00000155840.2:n.1590+213C>T
ENST00000335475.6:c.1209+213C>T	ENSP00000334497.5:n.1209+213C>T
ENST00000646564.1:c.696+213C>T	ENSP00000495806.1:n.696+213C>T
ENST00000155840.9:c.1590+213C>T	ENSP00000155840.2:n.1590+213C>T
ENST00000335475.5:c.1209+213C>T	ENSP00000334497.5:n.1209+213C>T
NM_000218.2:c.1590+213C>T , LRG_287t1:c.1590+213C>T	NP_000209.2:n.1590+213C>T
NM_181798.1:c.1209+213C>T , LRG_287t2:c.1209+213C>T	NP_861463.1:n.1209+213C>T
NM_000218.3:c.1590+213C>T MANE Select	NP_000209.2:n.1590+213C>T