Canonical Allele Identifier: CA216321374

Gene: KCNQ1

Linked Data

• dbSNP Id: rs550633156
• gnomAD v2: 11-2502335-T-C
• gnomAD v3: 11-2481105-T-C
• gnomAD v4: 11-2481105-T-C
• MyVariant Identifiers: chr11:g.2502335T>C (hg19) ; chr11:g.2481105T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2481105T>C , CM000673.2:g.2481105T>C	GRCh38
NC_000011.9:g.2502335T>C , CM000673.1:g.2502335T>C	GRCh37
NC_000011.8:g.2458911T>C	NCBI36
NG_008935.1:g.41115T>C , LRG_287:g.41115T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.91+19128T>C
ENST00000496887.7:c.125+35621T>C	ENSP00000434560.2:n.125+35621T>C
ENST00000646564.2:c.386+35621T>C	ENSP00000495806.2:n.386+35621T>C
ENST00000155840.12:c.386+35621T>C MANE Select	ENSP00000155840.2:n.386+35621T>C
ENST00000335475.6:c.5+19391T>C	ENSP00000334497.5:n.5+19391T>C
ENST00000646564.1:c.32+35621T>C	ENSP00000495806.1:n.32+35621T>C
ENST00000155840.9:c.386+35621T>C	ENSP00000155840.2:n.386+35621T>C
ENST00000335475.5:c.5+19391T>C	ENSP00000334497.5:n.5+19391T>C
ENST00000345015.4:n.163+35621T>C
ENST00000380776.4:c.84+19128T>C	ENSP00000370153.4:n.84+19128T>C
ENST00000496887.6:c.125+35621T>C	ENSP00000434560.1:n.125+35621T>C
NM_000218.2:c.386+35621T>C , LRG_287t1:c.386+35621T>C	NP_000209.2:n.386+35621T>C
NM_181798.1:c.5+19391T>C , LRG_287t2:c.5+19391T>C	NP_861463.1:n.5+19391T>C
NM_000218.3:c.386+35621T>C MANE Select	NP_000209.2:n.386+35621T>C