Canonical Allele Identifier: CA379140265

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• MyVariant Identifiers: chr11:g.2869040T>G (hg19) ; chr11:g.2847810T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847810T>G , CM000673.2:g.2847810T>G	GRCh38
NC_000011.9:g.2869040T>G , CM000673.1:g.2869040T>G	GRCh37
NC_000011.8:g.2825616T>G	NCBI36
NG_008935.1:g.407820T>G , LRG_287:g.407820T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1481T>G (KCNQ1)	ENSP00000434560.2:p.Leu494Arg
ENST00000155840.12:c.1838T>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Leu613Arg
ENST00000335475.6:c.1457T>G (KCNQ1)	ENSP00000334497.5:p.Leu486Arg
ENST00000526095.2:c.242T>G (KCNQ1)	ENSP00000494939.1:p.Leu81Arg
ENST00000155840.9:c.1838T>G (KCNQ1)	ENSP00000155840.2:p.Leu613Arg
ENST00000335475.5:c.1457T>G (KCNQ1)	ENSP00000334497.5:p.Leu486Arg
ENST00000526095.1:n.345T>G (KCNQ1)
NM_000218.2:c.1838T>G , LRG_287t1:c.1838T>G (KCNQ1)	NP_000209.2:p.Leu613Arg
NM_181798.1:c.1457T>G , LRG_287t2:c.1457T>G (KCNQ1)	NP_861463.1:p.Leu486Arg
NR_130721.1:n.778-7368A>C (KCNQ1-AS1)
NM_000218.3:c.1838T>G (KCNQ1) MANE Select	NP_000209.2:p.Leu613Arg