Canonical Allele Identifier: CA379129939

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1321388
• ClinVar RCV Id: RCV001779482
• dbSNP Id: rs794728568
• gnomAD v4: 11-2570707-G-C
• MyVariant Identifiers: chr11:g.2591937G>C (hg19) ; chr11:g.2570707G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570707G>C , CM000673.2:g.2570707G>C	GRCh38
NC_000011.9:g.2591937G>C , CM000673.1:g.2591937G>C	GRCh37
NC_000011.8:g.2548513G>C	NCBI36
NG_008935.1:g.130717G>C , LRG_287:g.130717G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.296G>C	ENSP00000434560.2:p.Gly99Ala
ENST00000646564.2:c.478-12728G>C	ENSP00000495806.2:n.478-12728G>C
ENST00000155840.12:c.557G>C MANE Select	ENSP00000155840.2:p.Gly186Ala
ENST00000335475.6:c.176G>C	ENSP00000334497.5:p.Gly59Ala
ENST00000646564.1:c.124-12728G>C	ENSP00000495806.1:n.124-12728G>C
ENST00000155840.9:c.557G>C	ENSP00000155840.2:p.Gly186Ala
ENST00000335475.5:c.176G>C	ENSP00000334497.5:p.Gly59Ala
ENST00000496887.6:c.296G>C	ENSP00000434560.1:p.Gly99Ala
NM_000218.2:c.557G>C , LRG_287t1:c.557G>C	NP_000209.2:p.Gly186Ala
NM_181798.1:c.176G>C , LRG_287t2:c.176G>C	NP_861463.1:p.Gly59Ala
NM_000218.3:c.557G>C MANE Select	NP_000209.2:p.Gly186Ala