Canonical Allele Identifier: CA3186922945
Community Standard Title: NM_000218.3(KCNQ1):c.1863T= (p.Gly621=)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847835T= , CM000673.2:g.2847835T= GRCh38
NC_000011.9:g.2869065T= , CM000673.1:g.2869065T= GRCh37
NC_000011.8:g.2825641T= NCBI36
NG_008935.1:g.407845T= , LRG_287:g.407845T=

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1863T= (KCNQ1) MANE Select NP_000209.2:p.Gly621=
ENST00000155840.12:c.1863T= (KCNQ1) MANE Select ENSP00000155840.2:p.Gly621=
NM_000218.2:c.1863T= , LRG_287t1:c.1863T= (KCNQ1) NP_000209.2:p.Gly621=
NM_181798.1:c.1482T= , LRG_287t2:c.1482T= (KCNQ1) NP_861463.1:p.Gly494=
NR_130721.1:n.778-7393A= (KCNQ1-AS1)
ENST00000155840.9:c.1863T= (KCNQ1) ENSP00000155840.2:p.Gly621=
ENST00000335475.5:c.1482T= (KCNQ1) ENSP00000334497.5:p.Gly494=
ENST00000335475.6:c.1482T= (KCNQ1) ENSP00000334497.5:p.Gly494=
ENST00000496887.7:c.1506T= (KCNQ1) ENSP00000434560.2:p.Gly502=
ENST00000526095.1:n.370T= (KCNQ1)
ENST00000526095.2:c.267T= (KCNQ1) ENSP00000494939.1:p.Gly89=
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