Canonical Allele Identifier: CA379133051

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2583498-G-T
• MyVariant Identifiers: chr11:g.2604728G>T (hg19) ; chr11:g.2583498G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583498G>T , CM000673.2:g.2583498G>T	GRCh38
NC_000011.9:g.2604728G>T , CM000673.1:g.2604728G>T	GRCh37
NC_000011.8:g.2561304G>T	NCBI36
NG_008935.1:g.143508G>T , LRG_287:g.143508G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.724G>T	ENSP00000434560.2:p.Ala242Ser
ENST00000646564.2:c.541G>T	ENSP00000495806.2:p.Ala181Ser
ENST00000155840.12:c.985G>T MANE Select	ENSP00000155840.2:p.Ala329Ser
ENST00000335475.6:c.604G>T	ENSP00000334497.5:p.Ala202Ser
ENST00000646564.1:c.187G>T	ENSP00000495806.1:p.Ala63Ser
ENST00000155840.9:c.985G>T	ENSP00000155840.2:p.Ala329Ser
ENST00000335475.5:c.604G>T	ENSP00000334497.5:p.Ala202Ser
NM_000218.2:c.985G>T , LRG_287t1:c.985G>T	NP_000209.2:p.Ala329Ser
NM_181798.1:c.604G>T , LRG_287t2:c.604G>T	NP_861463.1:p.Ala202Ser
NM_000218.3:c.985G>T MANE Select	NP_000209.2:p.Ala329Ser