Canonical Allele Identifier: CA379140202

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2847780-A-G
• MyVariant Identifiers: chr11:g.2869010A>G (hg19) ; chr11:g.2847780A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847780A>G , CM000673.2:g.2847780A>G	GRCh38
NC_000011.9:g.2869010A>G , CM000673.1:g.2869010A>G	GRCh37
NC_000011.8:g.2825586A>G	NCBI36
NG_008935.1:g.407790A>G , LRG_287:g.407790A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1451A>G (KCNQ1)	ENSP00000434560.2:p.Asp484Gly
ENST00000155840.12:c.1808A>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Asp603Gly
ENST00000335475.6:c.1427A>G (KCNQ1)	ENSP00000334497.5:p.Asp476Gly
ENST00000526095.2:c.212A>G (KCNQ1)	ENSP00000494939.1:p.Asp71Gly
ENST00000155840.9:c.1808A>G (KCNQ1)	ENSP00000155840.2:p.Asp603Gly
ENST00000335475.5:c.1427A>G (KCNQ1)	ENSP00000334497.5:p.Asp476Gly
ENST00000526095.1:n.315A>G (KCNQ1)
NM_000218.2:c.1808A>G , LRG_287t1:c.1808A>G (KCNQ1)	NP_000209.2:p.Asp603Gly
NM_181798.1:c.1427A>G , LRG_287t2:c.1427A>G (KCNQ1)	NP_861463.1:p.Asp476Gly
NR_130721.1:n.778-7338T>C (KCNQ1-AS1)
NM_000218.3:c.1808A>G (KCNQ1) MANE Select	NP_000209.2:p.Asp603Gly