Canonical Allele Identifier: CA379134740

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1466341284
• gnomAD v2: 11-2608851-A-C
• gnomAD v3: 11-2587621-A-C
• gnomAD v4: 11-2587621-A-C
• MyVariant Identifiers: chr11:g.2608851A>C (hg19) ; chr11:g.2587621A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587621A>C , CM000673.2:g.2587621A>C	GRCh38
NC_000011.9:g.2608851A>C , CM000673.1:g.2608851A>C	GRCh37
NC_000011.8:g.2565427A>C	NCBI36
NG_008935.1:g.147631A>C , LRG_287:g.147631A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.823A>C	ENSP00000434560.2:p.Ile275Leu
ENST00000646564.2:c.640A>C	ENSP00000495806.2:p.Ile214Leu
ENST00000155840.12:c.1180A>C MANE Select	ENSP00000155840.2:p.Ile394Leu
ENST00000335475.6:c.799A>C	ENSP00000334497.5:p.Ile267Leu
ENST00000646564.1:c.286A>C	ENSP00000495806.1:p.Ile96Leu
ENST00000155840.9:c.1180A>C	ENSP00000155840.2:p.Ile394Leu
ENST00000335475.5:c.799A>C	ENSP00000334497.5:p.Ile267Leu
NM_000218.2:c.1180A>C , LRG_287t1:c.1180A>C	NP_000209.2:p.Ile394Leu
NM_181798.1:c.799A>C , LRG_287t2:c.799A>C	NP_861463.1:p.Ile267Leu
NM_000218.3:c.1180A>C MANE Select	NP_000209.2:p.Ile394Leu