Canonical Allele Identifier: CA007421
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2570701A>C
GRCh37 chr11:g.2591931A>C
Revel Score:
ENST00000496887 0.948
ENST00000155840 (MANE Select) 0.948
ENST00000335475 0.948
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570701A>C , CM000673.2:g.2570701A>C GRCh38
NC_000011.9:g.2591931A>C , CM000673.1:g.2591931A>C GRCh37
NC_000011.8:g.2548507A>C NCBI36
NG_008935.1:g.130711A>C , LRG_287:g.130711A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.290A>C ENSP00000434560.2:p.Tyr97Ser
ENST00000646564.2:c.478-12734A>C ENSP00000495806.2:n.478-12734A>C
ENST00000155840.12:c.551A>C MANE Select ENSP00000155840.2:p.Tyr184Ser
ENST00000335475.6:c.170A>C ENSP00000334497.5:p.Tyr57Ser
ENST00000646564.1:c.124-12734A>C ENSP00000495806.1:n.124-12734A>C
ENST00000155840.9:c.551A>C ENSP00000155840.2:p.Tyr184Ser
ENST00000335475.5:c.170A>C ENSP00000334497.5:p.Tyr57Ser
ENST00000496887.6:c.290A>C ENSP00000434560.1:p.Tyr97Ser
NM_000218.2:c.551A>C , LRG_287t1:c.551A>C NP_000209.2:p.Tyr184Ser
NM_181798.1:c.170A>C , LRG_287t2:c.170A>C NP_861463.1:p.Tyr57Ser
NM_000218.3:c.551A>C MANE Select NP_000209.2:p.Tyr184Ser
Search 100 bp 5'
Search 100 bp 3'