Canonical Allele Identifier: CA041541

Gene: KCNQ1

Linked Data

• dbSNP Id: rs756223961
• ExAC: 11:2604639 GCTGACCA / G
• gnomAD v2: 11-2604639-GCTGACCA-G
• MyVariant Identifiers: chr11:g.2604640_2604646del (hg19) ; chr11:g.2583410_2583416del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583413_2583419del , CM000673.2:g.2583413_2583419del	GRCh38
NC_000011.9:g.2604643_2604649del , CM000673.1:g.2604643_2604649del	GRCh37
NC_000011.8:g.2561219_2561225del	NCBI36
NG_008935.1:g.143423_143429del , LRG_287:g.143423_143429del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.661-22_661-16del	ENSP00000434560.2:n.661-22_661-16del
ENST00000646564.2:c.478-22_478-16del	ENSP00000495806.2:n.478-22_478-16del
ENST00000155840.12:c.922-22_922-16del MANE Select	ENSP00000155840.2:n.922-22_922-16del
ENST00000335475.6:c.541-22_541-16del	ENSP00000334497.5:n.541-22_541-16del
ENST00000646564.1:c.124-22_124-16del	ENSP00000495806.1:n.124-22_124-16del
ENST00000155840.9:c.922-22_922-16del	ENSP00000155840.2:n.922-22_922-16del
ENST00000335475.5:c.541-22_541-16del	ENSP00000334497.5:n.541-22_541-16del
NM_000218.2:c.922-22_922-16del , LRG_287t1:c.922-22_922-16del	NP_000209.2:n.922-22_922-16del
NM_181798.1:c.541-22_541-16del , LRG_287t2:c.541-22_541-16del	NP_861463.1:n.541-22_541-16del
NM_000218.3:c.922-22_922-16del MANE Select	NP_000209.2:n.922-22_922-16del