Canonical Allele Identifier: CA037399

Gene: KCNQ1

Linked Data

• dbSNP Id: rs367609110
• ExAC: 11:2549270 G / C
• gnomAD v2: 11-2549270-G-C
• gnomAD v3: 11-2528040-G-C
• gnomAD v4: 11-2528040-G-C
• MyVariant Identifiers: chr11:g.2549270G>C (hg19) ; chr11:g.2528040G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528040G>C , CM000673.2:g.2528040G>C	GRCh38
NC_000011.9:g.2549270G>C , CM000673.1:g.2549270G>C	GRCh37
NC_000011.8:g.2505846G>C	NCBI36
NG_008935.1:g.88050G>C , LRG_287:g.88050G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.216+22G>C	ENSP00000434560.2:n.216+22G>C
ENST00000646564.2:c.477+22G>C	ENSP00000495806.2:n.477+22G>C
ENST00000155840.12:c.477+22G>C MANE Select	ENSP00000155840.2:n.477+22G>C
ENST00000335475.6:c.96+22G>C	ENSP00000334497.5:n.96+22G>C
ENST00000646564.1:c.123+22G>C	ENSP00000495806.1:n.123+22G>C
ENST00000155840.9:c.477+22G>C	ENSP00000155840.2:n.477+22G>C
ENST00000335475.5:c.96+22G>C	ENSP00000334497.5:n.96+22G>C
ENST00000496887.6:c.216+22G>C	ENSP00000434560.1:n.216+22G>C
NM_000218.2:c.477+22G>C , LRG_287t1:c.477+22G>C	NP_000209.2:n.477+22G>C
NM_181798.1:c.96+22G>C , LRG_287t2:c.96+22G>C	NP_861463.1:n.96+22G>C
NM_000218.3:c.477+22G>C MANE Select	NP_000209.2:n.477+22G>C