Canonical Allele Identifier: CA379121453

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549205T>A (hg19) ; chr11:g.2527975T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527975T>A , CM000673.2:g.2527975T>A	GRCh38
NC_000011.9:g.2549205T>A , CM000673.1:g.2549205T>A	GRCh37
NC_000011.8:g.2505781T>A	NCBI36
NG_008935.1:g.87985T>A , LRG_287:g.87985T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.173T>A	ENSP00000434560.2:p.Ile58Asn
ENST00000646564.2:c.434T>A	ENSP00000495806.2:p.Ile145Asn
ENST00000155840.12:c.434T>A MANE Select	ENSP00000155840.2:p.Ile145Asn
ENST00000335475.6:c.53T>A	ENSP00000334497.5:p.Ile18Asn
ENST00000646564.1:c.80T>A	ENSP00000495806.1:p.Ile27Asn
ENST00000155840.9:c.434T>A	ENSP00000155840.2:p.Ile145Asn
ENST00000335475.5:c.53T>A	ENSP00000334497.5:p.Ile18Asn
ENST00000345015.4:n.303T>A
ENST00000496887.6:c.173T>A	ENSP00000434560.1:p.Ile58Asn
NM_000218.2:c.434T>A , LRG_287t1:c.434T>A	NP_000209.2:p.Ile145Asn
NM_181798.1:c.53T>A , LRG_287t2:c.53T>A	NP_861463.1:p.Ile18Asn
NM_000218.3:c.434T>A MANE Select	NP_000209.2:p.Ile145Asn