Canonical Allele Identifier: CA472038271

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549233G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528003G>C , CM000673.2:g.2528003G>C	GRCh38
NC_000011.9:g.2549233G>C , CM000673.1:g.2549233G>C	GRCh37
NC_000011.8:g.2505809G>C	NCBI36
NG_008935.1:g.88013G>C , LRG_287:g.88013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.201G>C	ENSP00000434560.2:p.Gly67=
ENST00000646564.2:c.462G>C	ENSP00000495806.2:p.Gly154=
ENST00000155840.12:c.462G>C MANE Select	ENSP00000155840.2:p.Gly154=
ENST00000335475.6:c.81G>C	ENSP00000334497.5:p.Gly27=
ENST00000646564.1:c.108G>C	ENSP00000495806.1:p.Gly36=
ENST00000155840.9:c.462G>C	ENSP00000155840.2:p.Gly154=
ENST00000335475.5:c.81G>C	ENSP00000334497.5:p.Gly27=
ENST00000496887.6:c.201G>C	ENSP00000434560.1:p.Gly67=
NM_000218.2:c.462G>C , LRG_287t1:c.462G>C	NP_000209.2:p.Gly154=
NM_181798.1:c.81G>C , LRG_287t2:c.81G>C	NP_861463.1:p.Gly27=
NM_000218.3:c.462G>C MANE Select	NP_000209.2:p.Gly154=