Canonical Allele Identifier: CA472465969

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2847769-G-A
• MyVariant Identifiers: chr11:g.2868999G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847769G>A , CM000673.2:g.2847769G>A	GRCh38
NC_000011.9:g.2868999G>A , CM000673.1:g.2868999G>A	GRCh37
NC_000011.8:g.2825575G>A	NCBI36
NG_008935.1:g.407779G>A , LRG_287:g.407779G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1440G>A (KCNQ1)	ENSP00000434560.2:p.Val480=
ENST00000155840.12:c.1797G>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Val599=
ENST00000335475.6:c.1416G>A (KCNQ1)	ENSP00000334497.5:p.Val472=
ENST00000526095.2:c.201G>A (KCNQ1)	ENSP00000494939.1:p.Val67=
ENST00000155840.9:c.1797G>A (KCNQ1)	ENSP00000155840.2:p.Val599=
ENST00000335475.5:c.1416G>A (KCNQ1)	ENSP00000334497.5:p.Val472=
ENST00000526095.1:n.304G>A (KCNQ1)
NM_000218.2:c.1797G>A , LRG_287t1:c.1797G>A (KCNQ1)	NP_000209.2:p.Val599=
NM_181798.1:c.1416G>A , LRG_287t2:c.1416G>A (KCNQ1)	NP_861463.1:p.Val472=
NR_130721.1:n.778-7327C>T (KCNQ1-AS1)
NM_000218.3:c.1797G>A (KCNQ1) MANE Select	NP_000209.2:p.Val599=