Canonical Allele Identifier: CA472466546

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs1304937783
• gnomAD v2: 11-2869092-C-T
• gnomAD v4: 11-2847862-C-T
• COSMIC: COSM3446608 ; COSM3446609
• MyVariant Identifiers: chr11:g.2869092C>T (hg19) ; chr11:g.2847862C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847862C>T , CM000673.2:g.2847862C>T	GRCh38
NC_000011.9:g.2869092C>T , CM000673.1:g.2869092C>T	GRCh37
NC_000011.8:g.2825668C>T	NCBI36
NG_008935.1:g.407872C>T , LRG_287:g.407872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1533C>T (KCNQ1)	ENSP00000434560.2:p.Pro511=
ENST00000155840.12:c.1890C>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Pro630=
ENST00000335475.6:c.1509C>T (KCNQ1)	ENSP00000334497.5:p.Pro503=
ENST00000526095.2:c.294C>T (KCNQ1)	ENSP00000494939.1:p.Pro98=
ENST00000155840.9:c.1890C>T (KCNQ1)	ENSP00000155840.2:p.Pro630=
ENST00000335475.5:c.1509C>T (KCNQ1)	ENSP00000334497.5:p.Pro503=
ENST00000526095.1:n.397C>T (KCNQ1)
NM_000218.2:c.1890C>T , LRG_287t1:c.1890C>T (KCNQ1)	NP_000209.2:p.Pro630=
NM_181798.1:c.1509C>T , LRG_287t2:c.1509C>T (KCNQ1)	NP_861463.1:p.Pro503=
NR_130721.1:n.778-7420G>A (KCNQ1-AS1)
NM_000218.3:c.1890C>T (KCNQ1) MANE Select	NP_000209.2:p.Pro630=