Canonical Allele Identifier: CA379140652

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2848001-T-C
• MyVariant Identifiers: chr11:g.2869231T>C (hg19) ; chr11:g.2848001T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848001T>C , CM000673.2:g.2848001T>C	GRCh38
NC_000011.9:g.2869231T>C , CM000673.1:g.2869231T>C	GRCh37
NC_000011.8:g.2825807T>C	NCBI36
NG_008935.1:g.408011T>C , LRG_287:g.408011T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1672T>C (KCNQ1)	ENSP00000434560.2:p.Ter558Arg
ENST00000155840.12:c.2029T>C (KCNQ1) MANE Select	ENSP00000155840.2:p.Ter677Arg
ENST00000335475.6:c.1648T>C (KCNQ1)	ENSP00000334497.5:p.Ter550Arg
ENST00000526095.2:c.433T>C (KCNQ1)	ENSP00000494939.1:p.Ter145Arg
ENST00000155840.9:c.2029T>C (KCNQ1)	ENSP00000155840.2:p.Ter677Arg
ENST00000335475.5:c.1648T>C (KCNQ1)	ENSP00000334497.5:p.Ter550Arg
ENST00000526095.1:n.536T>C (KCNQ1)
NM_000218.2:c.2029T>C , LRG_287t1:c.2029T>C (KCNQ1)	NP_000209.2:p.Ter677Arg
NM_181798.1:c.1648T>C , LRG_287t2:c.1648T>C (KCNQ1)	NP_861463.1:p.Ter550Arg
NR_130721.1:n.778-7559A>G (KCNQ1-AS1)
NM_000218.3:c.2029T>C (KCNQ1) MANE Select	NP_000209.2:p.Ter677Arg