Canonical Allele Identifier: CA379133830

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2585269-T-A
• MyVariant Identifiers: chr11:g.2606499T>A (hg19) ; chr11:g.2585269T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585269T>A , CM000673.2:g.2585269T>A	GRCh38
NC_000011.9:g.2606499T>A , CM000673.1:g.2606499T>A	GRCh37
NC_000011.8:g.2563075T>A	NCBI36
NG_008935.1:g.145279T>A , LRG_287:g.145279T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1724T>A	ENSP00000434560.2:n.771+1724T>A
ENST00000646564.2:c.588+1724T>A	ENSP00000495806.2:n.588+1724T>A
ENST00000155840.12:c.1090T>A MANE Select	ENSP00000155840.2:p.Phe364Ile
ENST00000335475.6:c.709T>A	ENSP00000334497.5:p.Phe237Ile
ENST00000646564.1:c.234+1724T>A	ENSP00000495806.1:n.234+1724T>A
ENST00000155840.9:c.1090T>A	ENSP00000155840.2:p.Phe364Ile
ENST00000335475.5:c.709T>A	ENSP00000334497.5:p.Phe237Ile
NM_000218.2:c.1090T>A , LRG_287t1:c.1090T>A	NP_000209.2:p.Phe364Ile
NM_181798.1:c.709T>A , LRG_287t2:c.709T>A	NP_861463.1:p.Phe237Ile
NM_000218.3:c.1090T>A MANE Select	NP_000209.2:p.Phe364Ile