Canonical Allele Identifier: CA379131377

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2594110G>C (hg19) ; chr11:g.2572880G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572880G>C , CM000673.2:g.2572880G>C	GRCh38
NC_000011.9:g.2594110G>C , CM000673.1:g.2594110G>C	GRCh37
NC_000011.8:g.2550686G>C	NCBI36
NG_008935.1:g.132890G>C , LRG_287:g.132890G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.554G>C	ENSP00000434560.2:p.Gly185Ala
ENST00000646564.2:c.478-10555G>C	ENSP00000495806.2:n.478-10555G>C
ENST00000155840.12:c.815G>C MANE Select	ENSP00000155840.2:p.Gly272Ala
ENST00000335475.6:c.434G>C	ENSP00000334497.5:p.Gly145Ala
ENST00000646564.1:c.124-10555G>C	ENSP00000495806.1:n.124-10555G>C
ENST00000155840.9:c.815G>C	ENSP00000155840.2:p.Gly272Ala
ENST00000335475.5:c.434G>C	ENSP00000334497.5:p.Gly145Ala
ENST00000496887.6:c.554G>C	ENSP00000434560.1:p.Gly185Ala
NM_000218.2:c.815G>C , LRG_287t1:c.815G>C	NP_000209.2:p.Gly272Ala
NM_181798.1:c.434G>C , LRG_287t2:c.434G>C	NP_861463.1:p.Gly145Ala
NM_000218.3:c.815G>C MANE Select	NP_000209.2:p.Gly272Ala