Canonical Allele Identifier: CA379135197

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2588845-G-T
• MyVariant Identifiers: chr11:g.2610075G>T (hg19) ; chr11:g.2588845G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588845G>T , CM000673.2:g.2588845G>T	GRCh38
NC_000011.9:g.2610075G>T , CM000673.1:g.2610075G>T	GRCh37
NC_000011.8:g.2566651G>T	NCBI36
NG_008935.1:g.148855G>T , LRG_287:g.148855G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1027G>T	ENSP00000434560.2:p.Asp343Tyr
ENST00000646564.2:c.844G>T	ENSP00000495806.2:p.Asp282Tyr
ENST00000155840.12:c.1384G>T MANE Select	ENSP00000155840.2:p.Asp462Tyr
ENST00000335475.6:c.1003G>T	ENSP00000334497.5:p.Asp335Tyr
ENST00000646564.1:c.490G>T	ENSP00000495806.1:p.Asp164Tyr
ENST00000155840.9:c.1384G>T	ENSP00000155840.2:p.Asp462Tyr
ENST00000335475.5:c.1003G>T	ENSP00000334497.5:p.Asp335Tyr
NM_000218.2:c.1384G>T , LRG_287t1:c.1384G>T	NP_000209.2:p.Asp462Tyr
NM_181798.1:c.1003G>T , LRG_287t2:c.1003G>T	NP_861463.1:p.Asp335Tyr
NM_000218.3:c.1384G>T MANE Select	NP_000209.2:p.Asp462Tyr