Canonical Allele Identifier: CA379140328
Community Standard Title: NM_000218.3(KCNQ1):c.1868G>C (p.Ser623Thr)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847840G>C , CM000673.2:g.2847840G>C GRCh38
NC_000011.9:g.2869070G>C , CM000673.1:g.2869070G>C GRCh37
NC_000011.8:g.2825646G>C NCBI36
NG_008935.1:g.407850G>C , LRG_287:g.407850G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1868G>C (KCNQ1) MANE Select NP_000209.2:p.Ser623Thr
ENST00000155840.12:c.1868G>C (KCNQ1) MANE Select ENSP00000155840.2:p.Ser623Thr
NM_000218.2:c.1868G>C , LRG_287t1:c.1868G>C (KCNQ1) NP_000209.2:p.Ser623Thr
NM_181798.1:c.1487G>C , LRG_287t2:c.1487G>C (KCNQ1) NP_861463.1:p.Ser496Thr
NR_130721.1:n.778-7398C>G (KCNQ1-AS1)
ENST00000155840.9:c.1868G>C (KCNQ1) ENSP00000155840.2:p.Ser623Thr
ENST00000335475.5:c.1487G>C (KCNQ1) ENSP00000334497.5:p.Ser496Thr
ENST00000335475.6:c.1487G>C (KCNQ1) ENSP00000334497.5:p.Ser496Thr
ENST00000496887.7:c.1511G>C (KCNQ1) ENSP00000434560.2:p.Ser504Thr
ENST00000526095.1:n.375G>C (KCNQ1)
ENST00000526095.2:c.272G>C (KCNQ1) ENSP00000494939.1:p.Ser91Thr
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