Canonical Allele Identifier: CA379140540

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• MyVariant Identifiers: chr11:g.2869174A>G (hg19) ; chr11:g.2847944A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847944A>G , CM000673.2:g.2847944A>G	GRCh38
NC_000011.9:g.2869174A>G , CM000673.1:g.2869174A>G	GRCh37
NC_000011.8:g.2825750A>G	NCBI36
NG_008935.1:g.407954A>G , LRG_287:g.407954A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1615A>G (KCNQ1)	ENSP00000434560.2:p.Thr539Ala
ENST00000155840.12:c.1972A>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Thr658Ala
ENST00000335475.6:c.1591A>G (KCNQ1)	ENSP00000334497.5:p.Thr531Ala
ENST00000526095.2:c.376A>G (KCNQ1)	ENSP00000494939.1:p.Thr126Ala
ENST00000155840.9:c.1972A>G (KCNQ1)	ENSP00000155840.2:p.Thr658Ala
ENST00000335475.5:c.1591A>G (KCNQ1)	ENSP00000334497.5:p.Thr531Ala
ENST00000526095.1:n.479A>G (KCNQ1)
NM_000218.2:c.1972A>G , LRG_287t1:c.1972A>G (KCNQ1)	NP_000209.2:p.Thr658Ala
NM_181798.1:c.1591A>G , LRG_287t2:c.1591A>G (KCNQ1)	NP_861463.1:p.Thr531Ala
NR_130721.1:n.778-7502T>C (KCNQ1-AS1)
NM_000218.3:c.1972A>G (KCNQ1) MANE Select	NP_000209.2:p.Thr658Ala