Canonical Allele Identifier: CA597114379

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs1435857509
• gnomAD v2: 11-2869303-CT-C
• MyVariant Identifiers: chr11:g.2869304del (hg19) ; chr11:g.2848074del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848074del , CM000673.2:g.2848074del	GRCh38
NC_000011.9:g.2869304del , CM000673.1:g.2869304del	GRCh37
NC_000011.8:g.2825880del	NCBI36
NG_008935.1:g.408084del , LRG_287:g.408084del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*71del (KCNQ1)	ENSP00000434560.2:n.*71del
ENST00000155840.12:c.*71del (KCNQ1) MANE Select	ENSP00000155840.2:n.*71del
ENST00000335475.6:c.*71del (KCNQ1)	ENSP00000334497.5:n.*71del
ENST00000526095.2:c.*71del (KCNQ1)	ENSP00000494939.1:n.*71del
ENST00000155840.9:c.*71del (KCNQ1)	ENSP00000155840.2:n.*71del
ENST00000335475.5:c.*71del (KCNQ1)	ENSP00000334497.5:n.*71del
ENST00000526095.1:n.609del (KCNQ1)
NM_000218.2:c.*71del , LRG_287t1:c.*71del (KCNQ1)	NP_000209.2:n.*71del
NM_181798.1:c.*71del , LRG_287t2:c.*71del (KCNQ1)	NP_861463.1:n.*71del
NR_130721.1:n.778-7632del (KCNQ1-AS1)
NM_000218.3:c.*71del (KCNQ1) MANE Select	NP_000209.2:n.*71del