Canonical Allele Identifier: CA675228339

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1305714969
• gnomAD v3: 11-2828323-C-T
• gnomAD v4: 11-2828323-C-T
• MyVariant Identifiers: chr11:g.2849553C>T (hg19) ; chr11:g.2828323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2828323C>T , CM000673.2:g.2828323C>T	GRCh38
NC_000011.9:g.2849553C>T , CM000673.1:g.2849553C>T	GRCh37
NC_000011.8:g.2806129C>T	NCBI36
NG_008935.1:g.388333C>T , LRG_287:g.388333C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1438-19444C>T	ENSP00000434560.2:n.1438-19444C>T
ENST00000646564.2:c.1255-11393C>T	ENSP00000495806.2:n.1255-11393C>T
ENST00000155840.12:c.1795-19444C>T MANE Select	ENSP00000155840.2:n.1795-19444C>T
ENST00000335475.6:c.1414-19444C>T	ENSP00000334497.5:n.1414-19444C>T
ENST00000526095.2:c.199-19444C>T	ENSP00000494939.1:n.199-19444C>T
ENST00000646564.1:c.901-11393C>T	ENSP00000495806.1:n.901-11393C>T
ENST00000155840.9:c.1795-19444C>T	ENSP00000155840.2:n.1795-19444C>T
ENST00000335475.5:c.1414-19444C>T	ENSP00000334497.5:n.1414-19444C>T
ENST00000526095.1:n.302-19444C>T
NM_000218.2:c.1795-19444C>T , LRG_287t1:c.1795-19444C>T	NP_000209.2:n.1795-19444C>T
NM_181798.1:c.1414-19444C>T , LRG_287t2:c.1414-19444C>T	NP_861463.1:n.1414-19444C>T
NM_000218.3:c.1795-19444C>T MANE Select	NP_000209.2:n.1795-19444C>T