Canonical Allele Identifier: CA379122222

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549245G>A (hg19) ; chr11:g.2528015G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528015G>A , CM000673.2:g.2528015G>A	GRCh38
NC_000011.9:g.2549245G>A , CM000673.1:g.2549245G>A	GRCh37
NC_000011.8:g.2505821G>A	NCBI36
NG_008935.1:g.88025G>A , LRG_287:g.88025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.213G>A	ENSP00000434560.2:p.Trp71Ter
ENST00000646564.2:c.474G>A	ENSP00000495806.2:p.Trp158Ter
ENST00000155840.12:c.474G>A MANE Select	ENSP00000155840.2:p.Trp158Ter
ENST00000335475.6:c.93G>A	ENSP00000334497.5:p.Trp31Ter
ENST00000646564.1:c.120G>A	ENSP00000495806.1:p.Trp40Ter
ENST00000155840.9:c.474G>A	ENSP00000155840.2:p.Trp158Ter
ENST00000335475.5:c.93G>A	ENSP00000334497.5:p.Trp31Ter
ENST00000496887.6:c.213G>A	ENSP00000434560.1:p.Trp71Ter
NM_000218.2:c.474G>A , LRG_287t1:c.474G>A	NP_000209.2:p.Trp158Ter
NM_181798.1:c.93G>A , LRG_287t2:c.93G>A	NP_861463.1:p.Trp31Ter
NM_000218.3:c.474G>A MANE Select	NP_000209.2:p.Trp158Ter