Canonical Allele Identifier: CA472038144

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2572878-G-A
• MyVariant Identifiers: chr11:g.2594108G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572878G>A , CM000673.2:g.2572878G>A	GRCh38
NC_000011.9:g.2594108G>A , CM000673.1:g.2594108G>A	GRCh37
NC_000011.8:g.2550684G>A	NCBI36
NG_008935.1:g.132888G>A , LRG_287:g.132888G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.552G>A	ENSP00000434560.2:p.Leu184=
ENST00000646564.2:c.478-10557G>A	ENSP00000495806.2:n.478-10557G>A
ENST00000155840.12:c.813G>A MANE Select	ENSP00000155840.2:p.Leu271=
ENST00000335475.6:c.432G>A	ENSP00000334497.5:p.Leu144=
ENST00000646564.1:c.124-10557G>A	ENSP00000495806.1:n.124-10557G>A
ENST00000155840.9:c.813G>A	ENSP00000155840.2:p.Leu271=
ENST00000335475.5:c.432G>A	ENSP00000334497.5:p.Leu144=
ENST00000496887.6:c.552G>A	ENSP00000434560.1:p.Leu184=
NM_000218.2:c.813G>A , LRG_287t1:c.813G>A	NP_000209.2:p.Leu271=
NM_181798.1:c.432G>A , LRG_287t2:c.432G>A	NP_861463.1:p.Leu144=
NM_000218.3:c.813G>A MANE Select	NP_000209.2:p.Leu271=