Canonical Allele Identifier: CA007432
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2570706G>A
GRCh37 chr11:g.2591936G>A
Revel Score:
ENST00000496887 0.937
ENST00000155840 (MANE Select) 0.937
ENST00000335475 0.937
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570706G>A , CM000673.2:g.2570706G>A GRCh38
NC_000011.9:g.2591936G>A , CM000673.1:g.2591936G>A GRCh37
NC_000011.8:g.2548512G>A NCBI36
NG_008935.1:g.130716G>A , LRG_287:g.130716G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.295G>A ENSP00000434560.2:p.Gly99Ser
ENST00000646564.2:c.478-12729G>A ENSP00000495806.2:n.478-12729G>A
ENST00000155840.12:c.556G>A MANE Select ENSP00000155840.2:p.Gly186Ser
ENST00000335475.6:c.175G>A ENSP00000334497.5:p.Gly59Ser
ENST00000646564.1:c.124-12729G>A ENSP00000495806.1:n.124-12729G>A
ENST00000155840.9:c.556G>A ENSP00000155840.2:p.Gly186Ser
ENST00000335475.5:c.175G>A ENSP00000334497.5:p.Gly59Ser
ENST00000496887.6:c.295G>A ENSP00000434560.1:p.Gly99Ser
NM_000218.2:c.556G>A , LRG_287t1:c.556G>A NP_000209.2:p.Gly186Ser
NM_181798.1:c.175G>A , LRG_287t2:c.175G>A NP_861463.1:p.Gly59Ser
NM_000218.3:c.556G>A MANE Select NP_000209.2:p.Gly186Ser
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