Canonical Allele Identifier: CA379135126

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1172079897
• gnomAD v2: 11-2610056-C-G
• gnomAD v4: 11-2588826-C-G
• MyVariant Identifiers: chr11:g.2610056C>G (hg19) ; chr11:g.2588826C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588826C>G , CM000673.2:g.2588826C>G	GRCh38
NC_000011.9:g.2610056C>G , CM000673.1:g.2610056C>G	GRCh37
NC_000011.8:g.2566632C>G	NCBI36
NG_008935.1:g.148836C>G , LRG_287:g.148836C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1008C>G	ENSP00000434560.2:p.His336Gln
ENST00000646564.2:c.825C>G	ENSP00000495806.2:p.His275Gln
ENST00000155840.12:c.1365C>G MANE Select	ENSP00000155840.2:p.His455Gln
ENST00000335475.6:c.984C>G	ENSP00000334497.5:p.His328Gln
ENST00000646564.1:c.471C>G	ENSP00000495806.1:p.His157Gln
ENST00000155840.9:c.1365C>G	ENSP00000155840.2:p.His455Gln
ENST00000335475.5:c.984C>G	ENSP00000334497.5:p.His328Gln
NM_000218.2:c.1365C>G , LRG_287t1:c.1365C>G	NP_000209.2:p.His455Gln
NM_181798.1:c.984C>G , LRG_287t2:c.984C>G	NP_861463.1:p.His328Gln
NM_000218.3:c.1365C>G MANE Select	NP_000209.2:p.His455Gln