Canonical Allele Identifier: CA037366

Gene: KCNQ1

Linked Data

• dbSNP Id: rs775104031
• ExAC: 11:2549239 C / G
• gnomAD v2: 11-2549239-C-G
• gnomAD v4: 11-2528009-C-G
• MyVariant Identifiers: chr11:g.2549239C>G (hg19) ; chr11:g.2528009C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528009C>G , CM000673.2:g.2528009C>G	GRCh38
NC_000011.9:g.2549239C>G , CM000673.1:g.2549239C>G	GRCh37
NC_000011.8:g.2505815C>G	NCBI36
NG_008935.1:g.88019C>G , LRG_287:g.88019C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.207C>G	ENSP00000434560.2:p.Leu69=
ENST00000646564.2:c.468C>G	ENSP00000495806.2:p.Leu156=
ENST00000155840.12:c.468C>G MANE Select	ENSP00000155840.2:p.Leu156=
ENST00000335475.6:c.87C>G	ENSP00000334497.5:p.Leu29=
ENST00000646564.1:c.114C>G	ENSP00000495806.1:p.Leu38=
ENST00000155840.9:c.468C>G	ENSP00000155840.2:p.Leu156=
ENST00000335475.5:c.87C>G	ENSP00000334497.5:p.Leu29=
ENST00000496887.6:c.207C>G	ENSP00000434560.1:p.Leu69=
NM_000218.2:c.468C>G , LRG_287t1:c.468C>G	NP_000209.2:p.Leu156=
NM_181798.1:c.87C>G , LRG_287t2:c.87C>G	NP_861463.1:p.Leu29=
NM_000218.3:c.468C>G MANE Select	NP_000209.2:p.Leu156=