Canonical Allele Identifier: CA1948236672

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848635203

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588973_2588976del , CM000673.2:g.2588973_2588976del	GRCh38
NC_000011.9:g.2610203_2610206del , CM000673.1:g.2610203_2610206del	GRCh37
NC_000011.8:g.2566779_2566782del	NCBI36
NG_008935.1:g.148983_148986del , LRG_287:g.148983_148986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1036+119_1036+122del	ENSP00000434560.2:n.1036+119_1036+122del
ENST00000646564.2:c.853+119_853+122del	ENSP00000495806.2:n.853+119_853+122del
ENST00000155840.12:c.1393+119_1393+122del MANE Select	ENSP00000155840.2:n.1393+119_1393+122del
ENST00000335475.6:c.1012+119_1012+122del	ENSP00000334497.5:n.1012+119_1012+122del
ENST00000646564.1:c.499+119_499+122del	ENSP00000495806.1:n.499+119_499+122del
ENST00000155840.9:c.1393+119_1393+122del	ENSP00000155840.2:n.1393+119_1393+122del
ENST00000335475.5:c.1012+119_1012+122del	ENSP00000334497.5:n.1012+119_1012+122del
NM_000218.2:c.1393+119_1393+122del , LRG_287t1:c.1393+119_1393+122del	NP_000209.2:n.1393+119_1393+122del
NM_181798.1:c.1012+119_1012+122del , LRG_287t2:c.1012+119_1012+122del	NP_861463.1:n.1012+119_1012+122del
NM_000218.3:c.1393+119_1393+122del MANE Select	NP_000209.2:n.1393+119_1393+122del