Canonical Allele Identifier: CA379116912

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2445340-C-G
• MyVariant Identifiers: chr11:g.2466570C>G (hg19) ; chr11:g.2445340C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445340C>G , CM000673.2:g.2445340C>G	GRCh38
NC_000011.9:g.2466570C>G , CM000673.1:g.2466570C>G	GRCh37
NC_000011.8:g.2423146C>G	NCBI36
NG_008935.1:g.5350C>G , LRG_287:g.5350C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.24-43C>G	ENSP00000434560.2:n.24-43C>G
ENST00000646564.2:c.242C>G	ENSP00000495806.2:p.Pro81Arg
ENST00000155840.12:c.242C>G MANE Select	ENSP00000155840.2:p.Pro81Arg
ENST00000155840.9:c.242C>G	ENSP00000155840.2:p.Pro81Arg
ENST00000345015.4:n.19C>G
ENST00000496887.6:c.24-43C>G	ENSP00000434560.1:n.24-43C>G
NM_000218.2:c.242C>G , LRG_287t1:c.242C>G	NP_000209.2:p.Pro81Arg
NM_000218.3:c.242C>G MANE Select	NP_000209.2:p.Pro81Arg