Canonical Allele Identifier: CA1948243129

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848357749

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572788A>C , CM000673.2:g.2572788A>C	GRCh38
NC_000011.9:g.2594018A>C , CM000673.1:g.2594018A>C	GRCh37
NC_000011.8:g.2550594A>C	NCBI36
NG_008935.1:g.132798A>C , LRG_287:g.132798A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.520-58A>C	ENSP00000434560.2:n.520-58A>C
ENST00000646564.2:c.478-10647A>C	ENSP00000495806.2:n.478-10647A>C
ENST00000155840.12:c.781-58A>C MANE Select	ENSP00000155840.2:n.781-58A>C
ENST00000335475.6:c.400-58A>C	ENSP00000334497.5:n.400-58A>C
ENST00000646564.1:c.124-10647A>C	ENSP00000495806.1:n.124-10647A>C
ENST00000155840.9:c.781-58A>C	ENSP00000155840.2:n.781-58A>C
ENST00000335475.5:c.400-58A>C	ENSP00000334497.5:n.400-58A>C
ENST00000496887.6:c.520-58A>C	ENSP00000434560.1:n.520-58A>C
NM_000218.2:c.781-58A>C , LRG_287t1:c.781-58A>C	NP_000209.2:n.781-58A>C
NM_181798.1:c.400-58A>C , LRG_287t2:c.400-58A>C	NP_861463.1:n.400-58A>C
NM_000218.3:c.781-58A>C MANE Select	NP_000209.2:n.781-58A>C