Canonical Allele Identifier: CA379140428

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs1189517210
• gnomAD v2: 11-2869120-C-T
• gnomAD v4: 11-2847890-C-T
• MyVariant Identifiers: chr11:g.2869120C>T (hg19) ; chr11:g.2847890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847890C>T , CM000673.2:g.2847890C>T	GRCh38
NC_000011.9:g.2869120C>T , CM000673.1:g.2869120C>T	GRCh37
NC_000011.8:g.2825696C>T	NCBI36
NG_008935.1:g.407900C>T , LRG_287:g.407900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1561C>T (KCNQ1)	ENSP00000434560.2:p.Gln521Ter
ENST00000155840.12:c.1918C>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Gln640Ter
ENST00000335475.6:c.1537C>T (KCNQ1)	ENSP00000334497.5:p.Gln513Ter
ENST00000526095.2:c.322C>T (KCNQ1)	ENSP00000494939.1:p.Gln108Ter
ENST00000155840.9:c.1918C>T (KCNQ1)	ENSP00000155840.2:p.Gln640Ter
ENST00000335475.5:c.1537C>T (KCNQ1)	ENSP00000334497.5:p.Gln513Ter
ENST00000526095.1:n.425C>T (KCNQ1)
NM_000218.2:c.1918C>T , LRG_287t1:c.1918C>T (KCNQ1)	NP_000209.2:p.Gln640Ter
NM_181798.1:c.1537C>T , LRG_287t2:c.1537C>T (KCNQ1)	NP_861463.1:p.Gln513Ter
NR_130721.1:n.778-7448G>A (KCNQ1-AS1)
NM_000218.3:c.1918C>T (KCNQ1) MANE Select	NP_000209.2:p.Gln640Ter