Canonical Allele Identifier: CA379129861

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2591892A>C (hg19) ; chr11:g.2570662A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570662A>C , CM000673.2:g.2570662A>C	GRCh38
NC_000011.9:g.2591892A>C , CM000673.1:g.2591892A>C	GRCh37
NC_000011.8:g.2548468A>C	NCBI36
NG_008935.1:g.130672A>C , LRG_287:g.130672A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.251A>C	ENSP00000434560.2:p.Tyr84Ser
ENST00000646564.2:c.478-12773A>C	ENSP00000495806.2:n.478-12773A>C
ENST00000155840.12:c.512A>C MANE Select	ENSP00000155840.2:p.Tyr171Ser
ENST00000335475.6:c.131A>C	ENSP00000334497.5:p.Tyr44Ser
ENST00000646564.1:c.124-12773A>C	ENSP00000495806.1:n.124-12773A>C
ENST00000155840.9:c.512A>C	ENSP00000155840.2:p.Tyr171Ser
ENST00000335475.5:c.131A>C	ENSP00000334497.5:p.Tyr44Ser
ENST00000496887.6:c.251A>C	ENSP00000434560.1:p.Tyr84Ser
NM_000218.2:c.512A>C , LRG_287t1:c.512A>C	NP_000209.2:p.Tyr171Ser
NM_181798.1:c.131A>C , LRG_287t2:c.131A>C	NP_861463.1:p.Tyr44Ser
NM_000218.3:c.512A>C MANE Select	NP_000209.2:p.Tyr171Ser