Canonical Allele Identifier: CA006603

Gene: KCNQ1 KCNQ1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847914G>A , CM000673.2:g.2847914G>A	GRCh38
NC_000011.9:g.2869144G>A , CM000673.1:g.2869144G>A	GRCh37
NC_000011.8:g.2825720G>A	NCBI36
NG_008935.1:g.407924G>A , LRG_287:g.407924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1585G>A (KCNQ1)	ENSP00000434560.2:p.Val529Ile
ENST00000155840.12:c.1942G>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Val648Ile
ENST00000335475.6:c.1561G>A (KCNQ1)	ENSP00000334497.5:p.Val521Ile
ENST00000526095.2:c.346G>A (KCNQ1)	ENSP00000494939.1:p.Val116Ile
ENST00000155840.9:c.1942G>A (KCNQ1)	ENSP00000155840.2:p.Val648Ile
ENST00000335475.5:c.1561G>A (KCNQ1)	ENSP00000334497.5:p.Val521Ile
ENST00000526095.1:n.449G>A (KCNQ1)
NM_000218.2:c.1942G>A , LRG_287t1:c.1942G>A (KCNQ1)	NP_000209.2:p.Val648Ile
NM_181798.1:c.1561G>A , LRG_287t2:c.1561G>A (KCNQ1)	NP_861463.1:p.Val521Ile
NR_130721.1:n.778-7472C>T (KCNQ1-AS1)
NM_000218.3:c.1942G>A (KCNQ1) MANE Select	NP_000209.2:p.Val648Ile