Canonical Allele Identifier: CA029246

Gene: KCNQ1

Linked Data

• dbSNP Id: rs143203529
• ExAC: 11:2610120 C / G
• gnomAD v2: 11-2610120-C-G
• gnomAD v3: 11-2588890-C-G
• gnomAD v4: 11-2588890-C-G
• MyVariant Identifiers: chr11:g.2610120C>G (hg19) ; chr11:g.2588890C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588890C>G , CM000673.2:g.2588890C>G	GRCh38
NC_000011.9:g.2610120C>G , CM000673.1:g.2610120C>G	GRCh37
NC_000011.8:g.2566696C>G	NCBI36
NG_008935.1:g.148900C>G , LRG_287:g.148900C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1036+36C>G	ENSP00000434560.2:n.1036+36C>G
ENST00000646564.2:c.853+36C>G	ENSP00000495806.2:n.853+36C>G
ENST00000155840.12:c.1393+36C>G MANE Select	ENSP00000155840.2:n.1393+36C>G
ENST00000335475.6:c.1012+36C>G	ENSP00000334497.5:n.1012+36C>G
ENST00000646564.1:c.499+36C>G	ENSP00000495806.1:n.499+36C>G
ENST00000155840.9:c.1393+36C>G	ENSP00000155840.2:n.1393+36C>G
ENST00000335475.5:c.1012+36C>G	ENSP00000334497.5:n.1012+36C>G
NM_000218.2:c.1393+36C>G , LRG_287t1:c.1393+36C>G	NP_000209.2:n.1393+36C>G
NM_181798.1:c.1012+36C>G , LRG_287t2:c.1012+36C>G	NP_861463.1:n.1012+36C>G
NM_000218.3:c.1393+36C>G MANE Select	NP_000209.2:n.1393+36C>G