Canonical Allele Identifier: CA675228343

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1375094165
• gnomAD v3: 11-2828325-CAT-C
• gnomAD v4: 11-2828325-CAT-C
• MyVariant Identifiers: chr11:g.2849556_2849557del (hg19) ; chr11:g.2828326_2828327del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2828326_2828327del , CM000673.2:g.2828326_2828327del	GRCh38
NC_000011.9:g.2849556_2849557del , CM000673.1:g.2849556_2849557del	GRCh37
NC_000011.8:g.2806132_2806133del	NCBI36
NG_008935.1:g.388336_388337del , LRG_287:g.388336_388337del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1438-19441_1438-19440del	ENSP00000434560.2:n.1438-19441_1438-19440del
ENST00000646564.2:c.1255-11390_1255-11389del	ENSP00000495806.2:n.1255-11390_1255-11389del
ENST00000155840.12:c.1795-19441_1795-19440del MANE Select	ENSP00000155840.2:n.1795-19441_1795-19440del
ENST00000335475.6:c.1414-19441_1414-19440del	ENSP00000334497.5:n.1414-19441_1414-19440del
ENST00000526095.2:c.199-19441_199-19440del	ENSP00000494939.1:n.199-19441_199-19440del
ENST00000646564.1:c.901-11390_901-11389del	ENSP00000495806.1:n.901-11390_901-11389del
ENST00000155840.9:c.1795-19441_1795-19440del	ENSP00000155840.2:n.1795-19441_1795-19440del
ENST00000335475.5:c.1414-19441_1414-19440del	ENSP00000334497.5:n.1414-19441_1414-19440del
ENST00000526095.1:n.302-19441_302-19440del
NM_000218.2:c.1795-19441_1795-19440del , LRG_287t1:c.1795-19441_1795-19440del	NP_000209.2:n.1795-19441_1795-19440del
NM_181798.1:c.1414-19441_1414-19440del , LRG_287t2:c.1414-19441_1414-19440del	NP_861463.1:n.1414-19441_1414-19440del
NM_000218.3:c.1795-19441_1795-19440del MANE Select	NP_000209.2:n.1795-19441_1795-19440del