Canonical Allele Identifier: CA472466851

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2847916-C-A
• MyVariant Identifiers: chr11:g.2869146C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847916C>A , CM000673.2:g.2847916C>A	GRCh38
NC_000011.9:g.2869146C>A , CM000673.1:g.2869146C>A	GRCh37
NC_000011.8:g.2825722C>A	NCBI36
NG_008935.1:g.407926C>A , LRG_287:g.407926C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1587C>A (KCNQ1)	ENSP00000434560.2:p.Val529=
ENST00000155840.12:c.1944C>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Val648=
ENST00000335475.6:c.1563C>A (KCNQ1)	ENSP00000334497.5:p.Val521=
ENST00000526095.2:c.348C>A (KCNQ1)	ENSP00000494939.1:p.Val116=
ENST00000155840.9:c.1944C>A (KCNQ1)	ENSP00000155840.2:p.Val648=
ENST00000335475.5:c.1563C>A (KCNQ1)	ENSP00000334497.5:p.Val521=
ENST00000526095.1:n.451C>A (KCNQ1)
NM_000218.2:c.1944C>A , LRG_287t1:c.1944C>A (KCNQ1)	NP_000209.2:p.Val648=
NM_181798.1:c.1563C>A , LRG_287t2:c.1563C>A (KCNQ1)	NP_861463.1:p.Val521=
NR_130721.1:n.778-7474G>T (KCNQ1-AS1)
NM_000218.3:c.1944C>A (KCNQ1) MANE Select	NP_000209.2:p.Val648=