Canonical Allele Identifier: CA1948236785

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848635814

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2589034_2589035del , CM000673.2:g.2589034_2589035del	GRCh38
NC_000011.9:g.2610264_2610265del , CM000673.1:g.2610264_2610265del	GRCh37
NC_000011.8:g.2566840_2566841del	NCBI36
NG_008935.1:g.149044_149045del , LRG_287:g.149044_149045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1036+180_1036+181del	ENSP00000434560.2:n.1036+180_1036+181del
ENST00000646564.2:c.853+180_853+181del	ENSP00000495806.2:n.853+180_853+181del
ENST00000155840.12:c.1393+180_1393+181del MANE Select	ENSP00000155840.2:n.1393+180_1393+181del
ENST00000335475.6:c.1012+180_1012+181del	ENSP00000334497.5:n.1012+180_1012+181del
ENST00000646564.1:c.499+180_499+181del	ENSP00000495806.1:n.499+180_499+181del
ENST00000155840.9:c.1393+180_1393+181del	ENSP00000155840.2:n.1393+180_1393+181del
ENST00000335475.5:c.1012+180_1012+181del	ENSP00000334497.5:n.1012+180_1012+181del
NM_000218.2:c.1393+180_1393+181del , LRG_287t1:c.1393+180_1393+181del	NP_000209.2:n.1393+180_1393+181del
NM_181798.1:c.1012+180_1012+181del , LRG_287t2:c.1012+180_1012+181del	NP_861463.1:n.1012+180_1012+181del
NM_000218.3:c.1393+180_1393+181del MANE Select	NP_000209.2:n.1393+180_1393+181del