Canonical Allele Identifier: CA597373517

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1207023581
• gnomAD v2: 11-2752642-G-GA
• gnomAD v3: 11-2731412-G-GA
• gnomAD v4: 11-2731412-G-GA
• MyVariant Identifiers: chr11:g.2752642_2752643insA (hg19) ; chr11:g.2731412_2731413insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2731412_2731413insA , CM000673.2:g.2731412_2731413insA	GRCh38
NC_000011.9:g.2752642_2752643insA , CM000673.1:g.2752642_2752643insA	GRCh37
NC_000011.8:g.2709218_2709219insA	NCBI36
NG_008935.1:g.291422_291423insA , LRG_287:g.291422_291423insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-37432_1158-37431insA	ENSP00000434560.2:n.1158-37432_1158-37431insA
ENST00000646564.2:c.975-37432_975-37431insA	ENSP00000495806.2:n.975-37432_975-37431insA
ENST00000155840.12:c.1515-37432_1515-37431insA MANE Select	ENSP00000155840.2:n.1515-37432_1515-37431insA
ENST00000335475.6:c.1134-37432_1134-37431insA	ENSP00000334497.5:n.1134-37432_1134-37431insA
ENST00000646564.1:c.621-37432_621-37431insA	ENSP00000495806.1:n.621-37432_621-37431insA
ENST00000155840.9:c.1515-37432_1515-37431insA	ENSP00000155840.2:n.1515-37432_1515-37431insA
ENST00000335475.5:c.1134-37432_1134-37431insA	ENSP00000334497.5:n.1134-37432_1134-37431insA
NM_000218.2:c.1515-37432_1515-37431insA , LRG_287t1:c.1515-37432_1515-37431insA	NP_000209.2:n.1515-37432_1515-37431insA
NM_181798.1:c.1134-37432_1134-37431insA , LRG_287t2:c.1134-37432_1134-37431insA	NP_861463.1:n.1134-37432_1134-37431insA
NM_000218.3:c.1515-37432_1515-37431insA MANE Select	NP_000209.2:n.1515-37432_1515-37431insA