Canonical Allele Identifier: CA379117115

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1182518091
• gnomAD v2: 11-2466599-G-C
• gnomAD v4: 11-2445369-G-C
• MyVariant Identifiers: chr11:g.2466599G>C (hg19) ; chr11:g.2445369G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445369G>C , CM000673.2:g.2445369G>C	GRCh38
NC_000011.9:g.2466599G>C , CM000673.1:g.2466599G>C	GRCh37
NC_000011.8:g.2423175G>C	NCBI36
NG_008935.1:g.5379G>C , LRG_287:g.5379G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.24-14G>C	ENSP00000434560.2:n.24-14G>C
ENST00000646564.2:c.271G>C	ENSP00000495806.2:p.Val91Leu
ENST00000155840.12:c.271G>C MANE Select	ENSP00000155840.2:p.Val91Leu
ENST00000155840.9:c.271G>C	ENSP00000155840.2:p.Val91Leu
ENST00000345015.4:n.48G>C
ENST00000496887.6:c.24-14G>C	ENSP00000434560.1:n.24-14G>C
NM_000218.2:c.271G>C , LRG_287t1:c.271G>C	NP_000209.2:p.Val91Leu
NM_000218.3:c.271G>C MANE Select	NP_000209.2:p.Val91Leu