Canonical Allele Identifier: CA379121918
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2527983T>C , CM000673.2:g.2527983T>C GRCh38
NC_000011.9:g.2549213T>C , CM000673.1:g.2549213T>C GRCh37
NC_000011.8:g.2505789T>C NCBI36
NG_008935.1:g.87993T>C , LRG_287:g.87993T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.181T>C ENSP00000434560.2:p.Tyr61His
ENST00000646564.2:c.442T>C ENSP00000495806.2:p.Tyr148His
ENST00000155840.12:c.442T>C MANE Select ENSP00000155840.2:p.Tyr148His
ENST00000335475.6:c.61T>C ENSP00000334497.5:p.Tyr21His
ENST00000646564.1:c.88T>C ENSP00000495806.1:p.Tyr30His
ENST00000155840.9:c.442T>C ENSP00000155840.2:p.Tyr148His
ENST00000335475.5:c.61T>C ENSP00000334497.5:p.Tyr21His
ENST00000496887.6:c.181T>C ENSP00000434560.1:p.Tyr61His
NM_000218.2:c.442T>C , LRG_287t1:c.442T>C NP_000209.2:p.Tyr148His
NM_181798.1:c.61T>C , LRG_287t2:c.61T>C NP_861463.1:p.Tyr21His
NM_000218.3:c.442T>C MANE Select NP_000209.2:p.Tyr148His