Canonical Allele Identifier: CA934476658

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2768668-CCTCCCCT-C
• gnomAD v4: 11-2768668-CCTCCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768670_2768676del , CM000673.2:g.2768670_2768676del	GRCh38
NC_000011.9:g.2789900_2789906del , CM000673.1:g.2789900_2789906del	GRCh37
NC_000011.8:g.2746476_2746482del	NCBI36
NG_008935.1:g.328680_328686del , LRG_287:g.328680_328686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-174_1158-168del	ENSP00000434560.2:n.1158-174_1158-168del
ENST00000646564.2:c.975-174_975-168del	ENSP00000495806.2:n.975-174_975-168del
ENST00000155840.12:c.1515-174_1515-168del MANE Select	ENSP00000155840.2:n.1515-174_1515-168del
ENST00000335475.6:c.1134-174_1134-168del	ENSP00000334497.5:n.1134-174_1134-168del
ENST00000646564.1:c.621-174_621-168del	ENSP00000495806.1:n.621-174_621-168del
ENST00000155840.9:c.1515-174_1515-168del	ENSP00000155840.2:n.1515-174_1515-168del
ENST00000335475.5:c.1134-174_1134-168del	ENSP00000334497.5:n.1134-174_1134-168del
NM_000218.2:c.1515-174_1515-168del , LRG_287t1:c.1515-174_1515-168del	NP_000209.2:n.1515-174_1515-168del
NM_181798.1:c.1134-174_1134-168del , LRG_287t2:c.1134-174_1134-168del	NP_861463.1:n.1134-174_1134-168del
NM_000218.3:c.1515-174_1515-168del MANE Select	NP_000209.2:n.1515-174_1515-168del