Canonical Allele Identifier: CA379140320
Community Standard Title: NM_000218.3(KCNQ1):c.1864G>C (p.Gly622Arg)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847836G>C , CM000673.2:g.2847836G>C GRCh38
NC_000011.9:g.2869066G>C , CM000673.1:g.2869066G>C GRCh37
NC_000011.8:g.2825642G>C NCBI36
NG_008935.1:g.407846G>C , LRG_287:g.407846G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1864G>C (KCNQ1) MANE Select NP_000209.2:p.Gly622Arg
ENST00000155840.12:c.1864G>C (KCNQ1) MANE Select ENSP00000155840.2:p.Gly622Arg
NM_000218.2:c.1864G>C , LRG_287t1:c.1864G>C (KCNQ1) NP_000209.2:p.Gly622Arg
NM_181798.1:c.1483G>C , LRG_287t2:c.1483G>C (KCNQ1) NP_861463.1:p.Gly495Arg
NR_130721.1:n.778-7394C>G (KCNQ1-AS1)
ENST00000155840.9:c.1864G>C (KCNQ1) ENSP00000155840.2:p.Gly622Arg
ENST00000335475.5:c.1483G>C (KCNQ1) ENSP00000334497.5:p.Gly495Arg
ENST00000335475.6:c.1483G>C (KCNQ1) ENSP00000334497.5:p.Gly495Arg
ENST00000496887.7:c.1507G>C (KCNQ1) ENSP00000434560.2:p.Gly503Arg
ENST00000526095.1:n.371G>C (KCNQ1)
ENST00000526095.2:c.268G>C (KCNQ1) ENSP00000494939.1:p.Gly90Arg
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