Canonical Allele Identifier: CA029097

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 526963
• ClinVar RCV Id: RCV000631635 ; RCV002388007 ; RCV003323647 ; RCV001841816
• dbSNP Id: rs184636161
• ExAC: 11:2610079 G / C
• gnomAD v2: 11-2610079-G-C
• gnomAD v3: 11-2588849-G-C
• gnomAD v4: 11-2588849-G-C
• MyVariant Identifiers: chr11:g.2610079G>C (hg19) ; chr11:g.2588849G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588849G>C , CM000673.2:g.2588849G>C	GRCh38
NC_000011.9:g.2610079G>C , CM000673.1:g.2610079G>C	GRCh37
NC_000011.8:g.2566655G>C	NCBI36
NG_008935.1:g.148859G>C , LRG_287:g.148859G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1031G>C	ENSP00000434560.2:p.Ser344Thr
ENST00000646564.2:c.848G>C	ENSP00000495806.2:p.Ser283Thr
ENST00000155840.12:c.1388G>C MANE Select	ENSP00000155840.2:p.Ser463Thr
ENST00000335475.6:c.1007G>C	ENSP00000334497.5:p.Ser336Thr
ENST00000646564.1:c.494G>C	ENSP00000495806.1:p.Ser165Thr
ENST00000155840.9:c.1388G>C	ENSP00000155840.2:p.Ser463Thr
ENST00000335475.5:c.1007G>C	ENSP00000334497.5:p.Ser336Thr
NM_000218.2:c.1388G>C , LRG_287t1:c.1388G>C	NP_000209.2:p.Ser463Thr
NM_181798.1:c.1007G>C , LRG_287t2:c.1007G>C	NP_861463.1:p.Ser336Thr
NM_000218.3:c.1388G>C MANE Select	NP_000209.2:p.Ser463Thr