Canonical Allele Identifier: CA934479426

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1847767408
• gnomAD v3: 11-2822918-T-G
• gnomAD v4: 11-2822918-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2822918T>G , CM000673.2:g.2822918T>G	GRCh38
NC_000011.9:g.2844148T>G , CM000673.1:g.2844148T>G	GRCh37
NC_000011.8:g.2800724T>G	NCBI36
NG_008935.1:g.382928T>G , LRG_287:g.382928T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1438-24849T>G	ENSP00000434560.2:n.1438-24849T>G
ENST00000646564.2:c.1255-16798T>G	ENSP00000495806.2:n.1255-16798T>G
ENST00000155840.12:c.1795-24849T>G MANE Select	ENSP00000155840.2:n.1795-24849T>G
ENST00000335475.6:c.1414-24849T>G	ENSP00000334497.5:n.1414-24849T>G
ENST00000526095.2:c.199-24849T>G	ENSP00000494939.1:n.199-24849T>G
ENST00000646564.1:c.901-16798T>G	ENSP00000495806.1:n.901-16798T>G
ENST00000155840.9:c.1795-24849T>G	ENSP00000155840.2:n.1795-24849T>G
ENST00000335475.5:c.1414-24849T>G	ENSP00000334497.5:n.1414-24849T>G
ENST00000526095.1:n.302-24849T>G
NM_000218.2:c.1795-24849T>G , LRG_287t1:c.1795-24849T>G	NP_000209.2:n.1795-24849T>G
NM_181798.1:c.1414-24849T>G , LRG_287t2:c.1414-24849T>G	NP_861463.1:n.1414-24849T>G
NM_000218.3:c.1795-24849T>G MANE Select	NP_000209.2:n.1795-24849T>G