Canonical Allele Identifier: CA2612008903

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2769050-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2769050G>A , CM000673.2:g.2769050G>A	GRCh38
NC_000011.9:g.2790280G>A , CM000673.1:g.2790280G>A	GRCh37
NC_000011.8:g.2746856G>A	NCBI36
NG_008935.1:g.329060G>A , LRG_287:g.329060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+131G>A	ENSP00000434560.2:n.1233+131G>A
ENST00000646564.2:c.1050+131G>A	ENSP00000495806.2:n.1050+131G>A
ENST00000155840.12:c.1590+131G>A MANE Select	ENSP00000155840.2:n.1590+131G>A
ENST00000335475.6:c.1209+131G>A	ENSP00000334497.5:n.1209+131G>A
ENST00000646564.1:c.696+131G>A	ENSP00000495806.1:n.696+131G>A
ENST00000155840.9:c.1590+131G>A	ENSP00000155840.2:n.1590+131G>A
ENST00000335475.5:c.1209+131G>A	ENSP00000334497.5:n.1209+131G>A
NM_000218.2:c.1590+131G>A , LRG_287t1:c.1590+131G>A	NP_000209.2:n.1590+131G>A
NM_181798.1:c.1209+131G>A , LRG_287t2:c.1209+131G>A	NP_861463.1:n.1209+131G>A
NM_000218.3:c.1590+131G>A MANE Select	NP_000209.2:n.1590+131G>A