Canonical Allele Identifier: CA006519

Gene: KCNQ1 KCNQ1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847832C>T , CM000673.2:g.2847832C>T	GRCh38
NC_000011.9:g.2869062C>T , CM000673.1:g.2869062C>T	GRCh37
NC_000011.8:g.2825638C>T	NCBI36
NG_008935.1:g.407842C>T , LRG_287:g.407842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1503C>T (KCNQ1)	ENSP00000434560.2:p.His501=
ENST00000155840.12:c.1860C>T (KCNQ1) MANE Select	ENSP00000155840.2:p.His620=
ENST00000335475.6:c.1479C>T (KCNQ1)	ENSP00000334497.5:p.His493=
ENST00000526095.2:c.264C>T (KCNQ1)	ENSP00000494939.1:p.His88=
ENST00000155840.9:c.1860C>T (KCNQ1)	ENSP00000155840.2:p.His620=
ENST00000335475.5:c.1479C>T (KCNQ1)	ENSP00000334497.5:p.His493=
ENST00000526095.1:n.367C>T (KCNQ1)
NM_000218.2:c.1860C>T , LRG_287t1:c.1860C>T (KCNQ1)	NP_000209.2:p.His620=
NM_181798.1:c.1479C>T , LRG_287t2:c.1479C>T (KCNQ1)	NP_861463.1:p.His493=
NR_130721.1:n.778-7390G>A (KCNQ1-AS1)
NM_000218.3:c.1860C>T (KCNQ1) MANE Select	NP_000209.2:p.His620=