Canonical Allele Identifier: CA379139047

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2790151T>C (hg19) ; chr11:g.2768921T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768921T>C , CM000673.2:g.2768921T>C	GRCh38
NC_000011.9:g.2790151T>C , CM000673.1:g.2790151T>C	GRCh37
NC_000011.8:g.2746727T>C	NCBI36
NG_008935.1:g.328931T>C , LRG_287:g.328931T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+2T>C	ENSP00000434560.2:n.1233+2T>C
ENST00000646564.2:c.1050+2T>C	ENSP00000495806.2:n.1050+2T>C
ENST00000155840.12:c.1590+2T>C MANE Select	ENSP00000155840.2:n.1590+2T>C
ENST00000335475.6:c.1209+2T>C	ENSP00000334497.5:n.1209+2T>C
ENST00000646564.1:c.696+2T>C	ENSP00000495806.1:n.696+2T>C
ENST00000155840.9:c.1590+2T>C	ENSP00000155840.2:n.1590+2T>C
ENST00000335475.5:c.1209+2T>C	ENSP00000334497.5:n.1209+2T>C
NM_000218.2:c.1590+2T>C , LRG_287t1:c.1590+2T>C	NP_000209.2:n.1590+2T>C
NM_181798.1:c.1209+2T>C , LRG_287t2:c.1209+2T>C	NP_861463.1:n.1209+2T>C
NM_000218.3:c.1590+2T>C MANE Select	NP_000209.2:n.1590+2T>C