Canonical Allele Identifier: CA379140205

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs1848361611
• gnomAD v4: 11-2847782-C-G
• MyVariant Identifiers: chr11:g.2869012C>G (hg19) ; chr11:g.2847782C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847782C>G , CM000673.2:g.2847782C>G	GRCh38
NC_000011.9:g.2869012C>G , CM000673.1:g.2869012C>G	GRCh37
NC_000011.8:g.2825588C>G	NCBI36
NG_008935.1:g.407792C>G , LRG_287:g.407792C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1453C>G (KCNQ1)	ENSP00000434560.2:p.Gln485Glu
ENST00000155840.12:c.1810C>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Gln604Glu
ENST00000335475.6:c.1429C>G (KCNQ1)	ENSP00000334497.5:p.Gln477Glu
ENST00000526095.2:c.214C>G (KCNQ1)	ENSP00000494939.1:p.Gln72Glu
ENST00000155840.9:c.1810C>G (KCNQ1)	ENSP00000155840.2:p.Gln604Glu
ENST00000335475.5:c.1429C>G (KCNQ1)	ENSP00000334497.5:p.Gln477Glu
ENST00000526095.1:n.317C>G (KCNQ1)
NM_000218.2:c.1810C>G , LRG_287t1:c.1810C>G (KCNQ1)	NP_000209.2:p.Gln604Glu
NM_181798.1:c.1429C>G , LRG_287t2:c.1429C>G (KCNQ1)	NP_861463.1:p.Gln477Glu
NR_130721.1:n.778-7340G>C (KCNQ1-AS1)
NM_000218.3:c.1810C>G (KCNQ1) MANE Select	NP_000209.2:p.Gln604Glu