Canonical Allele Identifier: CA472466664

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 1782433
• ClinVar RCV Id: RCV002408388
• dbSNP Id: rs771637859
• gnomAD v4: 11-2847880-C-G
• MyVariant Identifiers: chr11:g.2869110C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847880C>G , CM000673.2:g.2847880C>G	GRCh38
NC_000011.9:g.2869110C>G , CM000673.1:g.2869110C>G	GRCh37
NC_000011.8:g.2825686C>G	NCBI36
NG_008935.1:g.407890C>G , LRG_287:g.407890C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1551C>G (KCNQ1)	ENSP00000434560.2:p.Ala517=
ENST00000155840.12:c.1908C>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Ala636=
ENST00000335475.6:c.1527C>G (KCNQ1)	ENSP00000334497.5:p.Ala509=
ENST00000526095.2:c.312C>G (KCNQ1)	ENSP00000494939.1:p.Ala104=
ENST00000155840.9:c.1908C>G (KCNQ1)	ENSP00000155840.2:p.Ala636=
ENST00000335475.5:c.1527C>G (KCNQ1)	ENSP00000334497.5:p.Ala509=
ENST00000526095.1:n.415C>G (KCNQ1)
NM_000218.2:c.1908C>G , LRG_287t1:c.1908C>G (KCNQ1)	NP_000209.2:p.Ala636=
NM_181798.1:c.1527C>G , LRG_287t2:c.1527C>G (KCNQ1)	NP_861463.1:p.Ala509=
NR_130721.1:n.778-7438G>C (KCNQ1-AS1)
NM_000218.3:c.1908C>G (KCNQ1) MANE Select	NP_000209.2:p.Ala636=