Canonical Allele Identifier: CA1948336822

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1847771117

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2823083_2823084insG , CM000673.2:g.2823083_2823084insG	GRCh38
NC_000011.9:g.2844313_2844314insG , CM000673.1:g.2844313_2844314insG	GRCh37
NC_000011.8:g.2800889_2800890insG	NCBI36
NG_008935.1:g.383093_383094insG , LRG_287:g.383093_383094insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1438-24684_1438-24683insG	ENSP00000434560.2:n.1438-24684_1438-24683insG
ENST00000646564.2:c.1255-16633_1255-16632insG	ENSP00000495806.2:n.1255-16633_1255-16632insG
ENST00000155840.12:c.1795-24684_1795-24683insG MANE Select	ENSP00000155840.2:n.1795-24684_1795-24683insG
ENST00000335475.6:c.1414-24684_1414-24683insG	ENSP00000334497.5:n.1414-24684_1414-24683insG
ENST00000526095.2:c.199-24684_199-24683insG	ENSP00000494939.1:n.199-24684_199-24683insG
ENST00000646564.1:c.901-16633_901-16632insG	ENSP00000495806.1:n.901-16633_901-16632insG
ENST00000155840.9:c.1795-24684_1795-24683insG	ENSP00000155840.2:n.1795-24684_1795-24683insG
ENST00000335475.5:c.1414-24684_1414-24683insG	ENSP00000334497.5:n.1414-24684_1414-24683insG
ENST00000526095.1:n.302-24684_302-24683insG
NM_000218.2:c.1795-24684_1795-24683insG , LRG_287t1:c.1795-24684_1795-24683insG	NP_000209.2:n.1795-24684_1795-24683insG
NM_181798.1:c.1414-24684_1414-24683insG , LRG_287t2:c.1414-24684_1414-24683insG	NP_861463.1:n.1414-24684_1414-24683insG
NM_000218.3:c.1795-24684_1795-24683insG MANE Select	NP_000209.2:n.1795-24684_1795-24683insG