Canonical Allele Identifier: CA216319515

Gene: KCNQ1

Linked Data

• dbSNP Id: rs867900631
• gnomAD v4: 11-2527987-C-T
• MyVariant Identifiers: chr11:g.2549217C>T (hg19) ; chr11:g.2527987C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527987C>T , CM000673.2:g.2527987C>T	GRCh38
NC_000011.9:g.2549217C>T , CM000673.1:g.2549217C>T	GRCh37
NC_000011.8:g.2505793C>T	NCBI36
NG_008935.1:g.87997C>T , LRG_287:g.87997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.185C>T	ENSP00000434560.2:p.Ala62Val
ENST00000646564.2:c.446C>T	ENSP00000495806.2:p.Ala149Val
ENST00000155840.12:c.446C>T MANE Select	ENSP00000155840.2:p.Ala149Val
ENST00000335475.6:c.65C>T	ENSP00000334497.5:p.Ala22Val
ENST00000646564.1:c.92C>T	ENSP00000495806.1:p.Ala31Val
ENST00000155840.9:c.446C>T	ENSP00000155840.2:p.Ala149Val
ENST00000335475.5:c.65C>T	ENSP00000334497.5:p.Ala22Val
ENST00000496887.6:c.185C>T	ENSP00000434560.1:p.Ala62Val
NM_000218.2:c.446C>T , LRG_287t1:c.446C>T	NP_000209.2:p.Ala149Val
NM_181798.1:c.65C>T , LRG_287t2:c.65C>T	NP_861463.1:p.Ala22Val
NM_000218.3:c.446C>T MANE Select	NP_000209.2:p.Ala149Val