Canonical Allele Identifier: CA934479479

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2822971-AGTGG-A
• gnomAD v4: 11-2822971-AGTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2822972_2822975del , CM000673.2:g.2822972_2822975del	GRCh38
NC_000011.9:g.2844202_2844205del , CM000673.1:g.2844202_2844205del	GRCh37
NC_000011.8:g.2800778_2800781del	NCBI36
NG_008935.1:g.382982_382985del , LRG_287:g.382982_382985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1438-24795_1438-24792del	ENSP00000434560.2:n.1438-24795_1438-24792del
ENST00000646564.2:c.1255-16744_1255-16741del	ENSP00000495806.2:n.1255-16744_1255-16741del
ENST00000155840.12:c.1795-24795_1795-24792del MANE Select	ENSP00000155840.2:n.1795-24795_1795-24792del
ENST00000335475.6:c.1414-24795_1414-24792del	ENSP00000334497.5:n.1414-24795_1414-24792del
ENST00000526095.2:c.199-24795_199-24792del	ENSP00000494939.1:n.199-24795_199-24792del
ENST00000646564.1:c.901-16744_901-16741del	ENSP00000495806.1:n.901-16744_901-16741del
ENST00000155840.9:c.1795-24795_1795-24792del	ENSP00000155840.2:n.1795-24795_1795-24792del
ENST00000335475.5:c.1414-24795_1414-24792del	ENSP00000334497.5:n.1414-24795_1414-24792del
ENST00000526095.1:n.302-24795_302-24792del
NM_000218.2:c.1795-24795_1795-24792del , LRG_287t1:c.1795-24795_1795-24792del	NP_000209.2:n.1795-24795_1795-24792del
NM_181798.1:c.1414-24795_1414-24792del , LRG_287t2:c.1414-24795_1414-24792del	NP_861463.1:n.1414-24795_1414-24792del
NM_000218.3:c.1795-24795_1795-24792del MANE Select	NP_000209.2:n.1795-24795_1795-24792del