Canonical Allele Identifier: CA597110464

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1011077828
• gnomAD v2: 11-2604787-G-C
• MyVariant Identifiers: chr11:g.2604787G>C (hg19) ; chr11:g.2583557G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583557G>C , CM000673.2:g.2583557G>C	GRCh38
NC_000011.9:g.2604787G>C , CM000673.1:g.2604787G>C	GRCh37
NC_000011.8:g.2561363G>C	NCBI36
NG_008935.1:g.143567G>C , LRG_287:g.143567G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+12G>C	ENSP00000434560.2:n.771+12G>C
ENST00000646564.2:c.588+12G>C	ENSP00000495806.2:n.588+12G>C
ENST00000155840.12:c.1032+12G>C MANE Select	ENSP00000155840.2:n.1032+12G>C
ENST00000335475.6:c.651+12G>C	ENSP00000334497.5:n.651+12G>C
ENST00000646564.1:c.234+12G>C	ENSP00000495806.1:n.234+12G>C
ENST00000155840.9:c.1032+12G>C	ENSP00000155840.2:n.1032+12G>C
ENST00000335475.5:c.651+12G>C	ENSP00000334497.5:n.651+12G>C
NM_000218.2:c.1032+12G>C , LRG_287t1:c.1032+12G>C	NP_000209.2:n.1032+12G>C
NM_181798.1:c.651+12G>C , LRG_287t2:c.651+12G>C	NP_861463.1:n.651+12G>C
NM_000218.3:c.1032+12G>C MANE Select	NP_000209.2:n.1032+12G>C