Canonical Allele Identifier: CA038008

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs777048548
• ExAC: 11:2869727 C / T
• gnomAD v2: 11-2869727-C-T
• gnomAD v3: 11-2848497-C-T
• gnomAD v4: 11-2848497-C-T
• MyVariant Identifiers: chr11:g.2869727C>T (hg19) ; chr11:g.2848497C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848497C>T , CM000673.2:g.2848497C>T	GRCh38
NC_000011.9:g.2869727C>T , CM000673.1:g.2869727C>T	GRCh37
NC_000011.8:g.2826303C>T	NCBI36
NG_008935.1:g.408507C>T , LRG_287:g.408507C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.*494C>T (KCNQ1)	ENSP00000434560.2:n.*494C>T
ENST00000155840.12:c.*494C>T (KCNQ1) MANE Select	ENSP00000155840.2:n.*494C>T
ENST00000335475.6:c.*494C>T (KCNQ1)	ENSP00000334497.5:n.*494C>T
ENST00000155840.9:c.*494C>T (KCNQ1)	ENSP00000155840.2:n.*494C>T
ENST00000526095.1:n.1032C>T (KCNQ1)
NM_000218.2:c.*494C>T , LRG_287t1:c.*494C>T (KCNQ1)	NP_000209.2:n.*494C>T
NM_181798.1:c.*494C>T , LRG_287t2:c.*494C>T (KCNQ1)	NP_861463.1:n.*494C>T
NR_130721.1:n.778-8055G>A (KCNQ1-AS1)
NM_000218.3:c.*494C>T (KCNQ1) MANE Select	NP_000209.2:n.*494C>T