Canonical Allele Identifier: CA033979

Gene: KCNQ1 KCNQ1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847934G>C , CM000673.2:g.2847934G>C	GRCh38
NC_000011.9:g.2869164G>C , CM000673.1:g.2869164G>C	GRCh37
NC_000011.8:g.2825740G>C	NCBI36
NG_008935.1:g.407944G>C , LRG_287:g.407944G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1962G>C (KCNQ1) MANE Select	NP_000209.2:p.Leu654=
ENST00000155840.12:c.1962G>C (KCNQ1) MANE Select	ENSP00000155840.2:p.Leu654=
NM_000218.2:c.1962G>C , LRG_287t1:c.1962G>C (KCNQ1)	NP_000209.2:p.Leu654=
NM_181798.1:c.1581G>C , LRG_287t2:c.1581G>C (KCNQ1)	NP_861463.1:p.Leu527=
NR_130721.1:n.778-7492C>G (KCNQ1-AS1)
ENST00000155840.9:c.1962G>C (KCNQ1)	ENSP00000155840.2:p.Leu654=
ENST00000335475.5:c.1581G>C (KCNQ1)	ENSP00000334497.5:p.Leu527=
ENST00000335475.6:c.1581G>C (KCNQ1)	ENSP00000334497.5:p.Leu527=
ENST00000496887.7:c.1605G>C (KCNQ1)	ENSP00000434560.2:p.Leu535=
ENST00000526095.1:n.469G>C (KCNQ1)
ENST00000526095.2:c.366G>C (KCNQ1)	ENSP00000494939.1:p.Leu122=