Canonical Allele Identifier: CA472039996

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2588850-T-C
• MyVariant Identifiers: chr11:g.2610080T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588850T>C , CM000673.2:g.2588850T>C	GRCh38
NC_000011.9:g.2610080T>C , CM000673.1:g.2610080T>C	GRCh37
NC_000011.8:g.2566656T>C	NCBI36
NG_008935.1:g.148860T>C , LRG_287:g.148860T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1032T>C	ENSP00000434560.2:p.Ser344=
ENST00000646564.2:c.849T>C	ENSP00000495806.2:p.Ser283=
ENST00000155840.12:c.1389T>C MANE Select	ENSP00000155840.2:p.Ser463=
ENST00000335475.6:c.1008T>C	ENSP00000334497.5:p.Ser336=
ENST00000646564.1:c.495T>C	ENSP00000495806.1:p.Ser165=
ENST00000155840.9:c.1389T>C	ENSP00000155840.2:p.Ser463=
ENST00000335475.5:c.1008T>C	ENSP00000334497.5:p.Ser336=
NM_000218.2:c.1389T>C , LRG_287t1:c.1389T>C	NP_000209.2:p.Ser463=
NM_181798.1:c.1008T>C , LRG_287t2:c.1008T>C	NP_861463.1:p.Ser336=
NM_000218.3:c.1389T>C MANE Select	NP_000209.2:p.Ser463=