Canonical Allele Identifier: CA472466790

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2847901-C-G
• MyVariant Identifiers: chr11:g.2869131C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847901C>G , CM000673.2:g.2847901C>G	GRCh38
NC_000011.9:g.2869131C>G , CM000673.1:g.2869131C>G	GRCh37
NC_000011.8:g.2825707C>G	NCBI36
NG_008935.1:g.407911C>G , LRG_287:g.407911C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1572C>G (KCNQ1)	ENSP00000434560.2:p.Gly524=
ENST00000155840.12:c.1929C>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Gly643=
ENST00000335475.6:c.1548C>G (KCNQ1)	ENSP00000334497.5:p.Gly516=
ENST00000526095.2:c.333C>G (KCNQ1)	ENSP00000494939.1:p.Gly111=
ENST00000155840.9:c.1929C>G (KCNQ1)	ENSP00000155840.2:p.Gly643=
ENST00000335475.5:c.1548C>G (KCNQ1)	ENSP00000334497.5:p.Gly516=
ENST00000526095.1:n.436C>G (KCNQ1)
NM_000218.2:c.1929C>G , LRG_287t1:c.1929C>G (KCNQ1)	NP_000209.2:p.Gly643=
NM_181798.1:c.1548C>G , LRG_287t2:c.1548C>G (KCNQ1)	NP_861463.1:p.Gly516=
NR_130721.1:n.778-7459G>C (KCNQ1-AS1)
NM_000218.3:c.1929C>G (KCNQ1) MANE Select	NP_000209.2:p.Gly643=