Canonical Allele Identifier: CA029484

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 629070
• ClinVar RCV Id: RCV000829878
• dbSNP Id: rs550005589
• ExAC: 11:2683174 CCA / C
• gnomAD v2: 11-2683174-CCA-C
• gnomAD v3: 11-2661944-CCA-C
• gnomAD v4: 11-2661944-CCA-C
• MyVariant Identifiers: chr11:g.2683175_2683176del (hg19) ; chr11:g.2661946_2661947del (hg38) ; chr11:g.2661945_2661946del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661948_2661949del , CM000673.2:g.2661948_2661949del	GRCh38
NC_000011.9:g.2683178_2683179del , CM000673.1:g.2683178_2683179del	GRCh37
NC_000011.8:g.2639754_2639755del	NCBI36
NG_008935.1:g.221958_221959del , LRG_287:g.221958_221959del
NG_016178.2:g.43053_43054del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1037-13_1037-12del (KCNQ1)	ENSP00000434560.2:n.1037-13_1037-12del
ENST00000646564.2:c.854-13_854-12del (KCNQ1)	ENSP00000495806.2:n.854-13_854-12del
ENST00000155840.12:c.1394-13_1394-12del (KCNQ1) MANE Select	ENSP00000155840.2:n.1394-13_1394-12del
ENST00000335475.6:c.1013-13_1013-12del (KCNQ1)	ENSP00000334497.5:n.1013-13_1013-12del
ENST00000646564.1:c.500-13_500-12del (KCNQ1)	ENSP00000495806.1:n.500-13_500-12del
ENST00000155840.9:c.1394-13_1394-12del (KCNQ1)	ENSP00000155840.2:n.1394-13_1394-12del
ENST00000335475.5:c.1013-13_1013-12del (KCNQ1)	ENSP00000334497.5:n.1013-13_1013-12del
NM_000218.2:c.1394-13_1394-12del , LRG_287t1:c.1394-13_1394-12del (KCNQ1)	NP_000209.2:n.1394-13_1394-12del
NM_181798.1:c.1013-13_1013-12del , LRG_287t2:c.1013-13_1013-12del (KCNQ1)	NP_861463.1:n.1013-13_1013-12del
NR_002728.3:n.38053_38054del (KCNQ1OT1)
NM_000218.3:c.1394-13_1394-12del (KCNQ1) MANE Select	NP_000209.2:n.1394-13_1394-12del