Canonical Allele Identifier: CA16619311

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 418273
• ClinVar RCV Id: RCV000485179 ; RCV002329141
• dbSNP Id: rs1064793160

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587609_2587611dup , CM000673.2:g.2587609_2587611dup	GRCh38
NC_000011.9:g.2608839_2608841dup , CM000673.1:g.2608839_2608841dup	GRCh37
NC_000011.8:g.2565415_2565417dup	NCBI36
NG_008935.1:g.147619_147621dup , LRG_287:g.147619_147621dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.811_813dup	ENSP00000434560.2:p.Ser271_Thr272insSer
ENST00000646564.2:c.628_630dup	ENSP00000495806.2:p.Ser210_Thr211insSer
ENST00000155840.12:c.1168_1170dup MANE Select	ENSP00000155840.2:p.Ser390_Thr391insSer
ENST00000335475.6:c.787_789dup	ENSP00000334497.5:p.Ser263_Thr264insSer
ENST00000646564.1:c.274_276dup	ENSP00000495806.1:p.Ser92_Thr93insSer
ENST00000155840.9:c.1168_1170dup	ENSP00000155840.2:p.Ser390_Thr391insSer
ENST00000335475.5:c.787_789dup	ENSP00000334497.5:p.Ser263_Thr264insSer
NM_000218.2:c.1168_1170dup , LRG_287t1:c.1168_1170dup	NP_000209.2:p.Ser390_Thr391insSer
NM_181798.1:c.787_789dup , LRG_287t2:c.787_789dup	NP_861463.1:p.Ser263_Thr264insSer
NM_000218.3:c.1168_1170dup MANE Select	NP_000209.2:p.Ser390_Thr391insSer