Canonical Allele Identifier: CA1948349674
Community Standard Title: NM_000218.3(KCNQ1):c.1927G= (p.Gly643=)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847899G= , CM000673.2:g.2847899G= GRCh38
NC_000011.9:g.2869129G= , CM000673.1:g.2869129G= GRCh37
NC_000011.8:g.2825705G= NCBI36
NG_008935.1:g.407909G= , LRG_287:g.407909G=

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1927G= (KCNQ1) MANE Select NP_000209.2:p.Gly643=
ENST00000155840.12:c.1927G= (KCNQ1) MANE Select ENSP00000155840.2:p.Gly643=
NM_000218.2:c.1927G= , LRG_287t1:c.1927G= (KCNQ1) NP_000209.2:p.Gly643=
NM_181798.1:c.1546G= , LRG_287t2:c.1546G= (KCNQ1) NP_861463.1:p.Gly516=
NR_130721.1:n.778-7457C= (KCNQ1-AS1)
ENST00000155840.9:c.1927G= (KCNQ1) ENSP00000155840.2:p.Gly643=
ENST00000335475.5:c.1546G= (KCNQ1) ENSP00000334497.5:p.Gly516=
ENST00000335475.6:c.1546G= (KCNQ1) ENSP00000334497.5:p.Gly516=
ENST00000496887.7:c.1570G= (KCNQ1) ENSP00000434560.2:p.Gly524=
ENST00000526095.1:n.434G= (KCNQ1)
ENST00000526095.2:c.331G= (KCNQ1) ENSP00000494939.1:p.Gly111=