Canonical Allele Identifier: CA379140280

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• MyVariant Identifiers: chr11:g.2869047G>C (hg19) ; chr11:g.2847817G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847817G>C , CM000673.2:g.2847817G>C	GRCh38
NC_000011.9:g.2869047G>C , CM000673.1:g.2869047G>C	GRCh37
NC_000011.8:g.2825623G>C	NCBI36
NG_008935.1:g.407827G>C , LRG_287:g.407827G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1488G>C (KCNQ1)	ENSP00000434560.2:p.Gln496His
ENST00000155840.12:c.1845G>C (KCNQ1) MANE Select	ENSP00000155840.2:p.Gln615His
ENST00000335475.6:c.1464G>C (KCNQ1)	ENSP00000334497.5:p.Gln488His
ENST00000526095.2:c.249G>C (KCNQ1)	ENSP00000494939.1:p.Gln83His
ENST00000155840.9:c.1845G>C (KCNQ1)	ENSP00000155840.2:p.Gln615His
ENST00000335475.5:c.1464G>C (KCNQ1)	ENSP00000334497.5:p.Gln488His
ENST00000526095.1:n.352G>C (KCNQ1)
NM_000218.2:c.1845G>C , LRG_287t1:c.1845G>C (KCNQ1)	NP_000209.2:p.Gln615His
NM_181798.1:c.1464G>C , LRG_287t2:c.1464G>C (KCNQ1)	NP_861463.1:p.Gln488His
NR_130721.1:n.778-7375C>G (KCNQ1-AS1)
NM_000218.3:c.1845G>C (KCNQ1) MANE Select	NP_000209.2:p.Gln615His