Canonical Allele Identifier: CA2580082715

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2044454
• ClinVar RCV Id: RCV002903701

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528034G>C , CM000673.2:g.2528034G>C	GRCh38
NC_000011.9:g.2549264G>C , CM000673.1:g.2549264G>C	GRCh37
NC_000011.8:g.2505840G>C	NCBI36
NG_008935.1:g.88044G>C , LRG_287:g.88044G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.216+16G>C	ENSP00000434560.2:n.216+16G>C
ENST00000646564.2:c.477+16G>C	ENSP00000495806.2:n.477+16G>C
ENST00000155840.12:c.477+16G>C MANE Select	ENSP00000155840.2:n.477+16G>C
ENST00000335475.6:c.96+16G>C	ENSP00000334497.5:n.96+16G>C
ENST00000646564.1:c.123+16G>C	ENSP00000495806.1:n.123+16G>C
ENST00000155840.9:c.477+16G>C	ENSP00000155840.2:n.477+16G>C
ENST00000335475.5:c.96+16G>C	ENSP00000334497.5:n.96+16G>C
ENST00000496887.6:c.216+16G>C	ENSP00000434560.1:n.216+16G>C
NM_000218.2:c.477+16G>C , LRG_287t1:c.477+16G>C	NP_000209.2:n.477+16G>C
NM_181798.1:c.96+16G>C , LRG_287t2:c.96+16G>C	NP_861463.1:n.96+16G>C
NM_000218.3:c.477+16G>C MANE Select	NP_000209.2:n.477+16G>C