Canonical Allele Identifier: CA033459
Community Standard Title: NM_000218.3(KCNQ1):c.1874C>G (p.Pro625Arg)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847846C>G , CM000673.2:g.2847846C>G GRCh38
NC_000011.9:g.2869076C>G , CM000673.1:g.2869076C>G GRCh37
NC_000011.8:g.2825652C>G NCBI36
NG_008935.1:g.407856C>G , LRG_287:g.407856C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1874C>G (KCNQ1) MANE Select NP_000209.2:p.Pro625Arg
ENST00000155840.12:c.1874C>G (KCNQ1) MANE Select ENSP00000155840.2:p.Pro625Arg
NM_000218.2:c.1874C>G , LRG_287t1:c.1874C>G (KCNQ1) NP_000209.2:p.Pro625Arg
NM_181798.1:c.1493C>G , LRG_287t2:c.1493C>G (KCNQ1) NP_861463.1:p.Pro498Arg
NR_130721.1:n.778-7404G>C (KCNQ1-AS1)
ENST00000155840.9:c.1874C>G (KCNQ1) ENSP00000155840.2:p.Pro625Arg
ENST00000335475.5:c.1493C>G (KCNQ1) ENSP00000334497.5:p.Pro498Arg
ENST00000335475.6:c.1493C>G (KCNQ1) ENSP00000334497.5:p.Pro498Arg
ENST00000496887.7:c.1517C>G (KCNQ1) ENSP00000434560.2:p.Pro506Arg
ENST00000526095.1:n.381C>G (KCNQ1)
ENST00000526095.2:c.278C>G (KCNQ1) ENSP00000494939.1:p.Pro93Arg
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