Canonical Allele Identifier: CA216312416

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1043021835
• gnomAD v2: 11-2593994-G-A
• gnomAD v3: 11-2572764-G-A
• gnomAD v4: 11-2572764-G-A
• MyVariant Identifiers: chr11:g.2593994G>A (hg19) ; chr11:g.2572764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572764G>A , CM000673.2:g.2572764G>A	GRCh38
NC_000011.9:g.2593994G>A , CM000673.1:g.2593994G>A	GRCh37
NC_000011.8:g.2550570G>A	NCBI36
NG_008935.1:g.132774G>A , LRG_287:g.132774G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.520-82G>A	ENSP00000434560.2:n.520-82G>A
ENST00000646564.2:c.478-10671G>A	ENSP00000495806.2:n.478-10671G>A
ENST00000155840.12:c.781-82G>A MANE Select	ENSP00000155840.2:n.781-82G>A
ENST00000335475.6:c.400-82G>A	ENSP00000334497.5:n.400-82G>A
ENST00000646564.1:c.124-10671G>A	ENSP00000495806.1:n.124-10671G>A
ENST00000155840.9:c.781-82G>A	ENSP00000155840.2:n.781-82G>A
ENST00000335475.5:c.400-82G>A	ENSP00000334497.5:n.400-82G>A
ENST00000496887.6:c.520-82G>A	ENSP00000434560.1:n.520-82G>A
NM_000218.2:c.781-82G>A , LRG_287t1:c.781-82G>A	NP_000209.2:n.781-82G>A
NM_181798.1:c.400-82G>A , LRG_287t2:c.400-82G>A	NP_861463.1:n.400-82G>A
NM_000218.3:c.781-82G>A MANE Select	NP_000209.2:n.781-82G>A