Canonical Allele Identifier: CA379117354

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2445401-G-T
• MyVariant Identifiers: chr11:g.2466631G>T (hg19) ; chr11:g.2445401G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445401G>T , CM000673.2:g.2445401G>T	GRCh38
NC_000011.9:g.2466631G>T , CM000673.1:g.2466631G>T	GRCh37
NC_000011.8:g.2423207G>T	NCBI36
NG_008935.1:g.5411G>T , LRG_287:g.5411G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.42G>T	ENSP00000434560.2:p.Leu14Phe
ENST00000646564.2:c.303G>T	ENSP00000495806.2:p.Leu101Phe
ENST00000155840.12:c.303G>T MANE Select	ENSP00000155840.2:p.Leu101Phe
ENST00000155840.9:c.303G>T	ENSP00000155840.2:p.Leu101Phe
ENST00000345015.4:n.80G>T
ENST00000496887.6:c.42G>T	ENSP00000434560.1:p.Leu14Phe
NM_000218.2:c.303G>T , LRG_287t1:c.303G>T	NP_000209.2:p.Leu101Phe
NM_000218.3:c.303G>T MANE Select	NP_000209.2:p.Leu101Phe