Canonical Allele Identifier: CA2790200936

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2463464G>C , CM000673.2:g.2463464G>C	GRCh38
NC_000011.9:g.2484694G>C , CM000673.1:g.2484694G>C	GRCh37
NC_000011.8:g.2441270G>C	NCBI36
NG_008935.1:g.23474G>C , LRG_287:g.23474G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.91+1487G>C
ENST00000496887.7:c.125+17980G>C	ENSP00000434560.2:n.125+17980G>C
ENST00000646564.2:c.386+17980G>C	ENSP00000495806.2:n.386+17980G>C
ENST00000155840.12:c.386+17980G>C MANE Select	ENSP00000155840.2:n.386+17980G>C
ENST00000335475.6:c.5+1750G>C	ENSP00000334497.5:n.5+1750G>C
ENST00000646564.1:c.32+17980G>C	ENSP00000495806.1:n.32+17980G>C
ENST00000155840.9:c.386+17980G>C	ENSP00000155840.2:n.386+17980G>C
ENST00000335475.5:c.5+1750G>C	ENSP00000334497.5:n.5+1750G>C
ENST00000345015.4:n.163+17980G>C
ENST00000380776.4:c.84+1487G>C	ENSP00000370153.4:n.84+1487G>C
ENST00000496887.6:c.125+17980G>C	ENSP00000434560.1:n.125+17980G>C
NM_000218.2:c.386+17980G>C , LRG_287t1:c.386+17980G>C	NP_000209.2:n.386+17980G>C
NM_181798.1:c.5+1750G>C , LRG_287t2:c.5+1750G>C	NP_861463.1:n.5+1750G>C
NM_000218.3:c.386+17980G>C MANE Select	NP_000209.2:n.386+17980G>C