Canonical Allele Identifier: CA028774
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2588804C>A
GRCh37 chr11:g.2610034C>A
Revel Score:
ENST00000155840 (MANE Select) 0.512
ENST00000335475 0.512
gnomAD v2:
11:2610034 C / A
gnomAD v3:
11:2588804 C / A
gnomAD v4:
chr11-2588804-C-A
Joint Max Group AF 0.00009201 (SAS)
Exomes Max Group AF 0.00008892 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2588804C>A , CM000673.2:g.2588804C>A GRCh38
NC_000011.9:g.2610034C>A , CM000673.1:g.2610034C>A GRCh37
NC_000011.8:g.2566610C>A NCBI36
NG_008935.1:g.148814C>A , LRG_287:g.148814C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.986C>A ENSP00000434560.2:p.Pro329Gln
ENST00000646564.2:c.803C>A ENSP00000495806.2:p.Pro268Gln
ENST00000155840.12:c.1343C>A MANE Select ENSP00000155840.2:p.Pro448Gln
ENST00000335475.6:c.962C>A ENSP00000334497.5:p.Pro321Gln
ENST00000646564.1:c.449C>A ENSP00000495806.1:p.Pro150Gln
ENST00000155840.9:c.1343C>A ENSP00000155840.2:p.Pro448Gln
ENST00000335475.5:c.962C>A ENSP00000334497.5:p.Pro321Gln
NM_000218.2:c.1343C>A , LRG_287t1:c.1343C>A NP_000209.2:p.Pro448Gln
NM_181798.1:c.962C>A , LRG_287t2:c.962C>A NP_861463.1:p.Pro321Gln
NM_000218.3:c.1343C>A MANE Select NP_000209.2:p.Pro448Gln
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