Canonical Allele Identifier: CA216359915

Gene: KCNQ1

Linked Data

• dbSNP Id: rs937993737
• gnomAD v3: 11-2823053-A-G
• gnomAD v4: 11-2823053-A-G
• MyVariant Identifiers: chr11:g.2844283A>G (hg19) ; chr11:g.2823053A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2823053A>G , CM000673.2:g.2823053A>G	GRCh38
NC_000011.9:g.2844283A>G , CM000673.1:g.2844283A>G	GRCh37
NC_000011.8:g.2800859A>G	NCBI36
NG_008935.1:g.383063A>G , LRG_287:g.383063A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1438-24714A>G	ENSP00000434560.2:n.1438-24714A>G
ENST00000646564.2:c.1255-16663A>G	ENSP00000495806.2:n.1255-16663A>G
ENST00000155840.12:c.1795-24714A>G MANE Select	ENSP00000155840.2:n.1795-24714A>G
ENST00000335475.6:c.1414-24714A>G	ENSP00000334497.5:n.1414-24714A>G
ENST00000526095.2:c.199-24714A>G	ENSP00000494939.1:n.199-24714A>G
ENST00000646564.1:c.901-16663A>G	ENSP00000495806.1:n.901-16663A>G
ENST00000155840.9:c.1795-24714A>G	ENSP00000155840.2:n.1795-24714A>G
ENST00000335475.5:c.1414-24714A>G	ENSP00000334497.5:n.1414-24714A>G
ENST00000526095.1:n.302-24714A>G
NM_000218.2:c.1795-24714A>G , LRG_287t1:c.1795-24714A>G	NP_000209.2:n.1795-24714A>G
NM_181798.1:c.1414-24714A>G , LRG_287t2:c.1414-24714A>G	NP_861463.1:n.1414-24714A>G
NM_000218.3:c.1795-24714A>G MANE Select	NP_000209.2:n.1795-24714A>G