Canonical Allele Identifier: CA379121918

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549213T>C (hg19) ; chr11:g.2527983T>C (hg38)

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