Canonical Allele Identifier: CA038359

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1044083
• ClinVar RCV Id: RCV001348284 ; RCV001841213 ; RCV002350645
• dbSNP Id: rs749351255
• ExAC: 11:2591933 G / C
• gnomAD v2: 11-2591933-G-C
• gnomAD v4: 11-2570703-G-C
• MyVariant Identifiers: chr11:g.2591933G>C (hg19) ; chr11:g.2570703G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570703G>C , CM000673.2:g.2570703G>C	GRCh38
NC_000011.9:g.2591933G>C , CM000673.1:g.2591933G>C	GRCh37
NC_000011.8:g.2548509G>C	NCBI36
NG_008935.1:g.130713G>C , LRG_287:g.130713G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.292G>C	ENSP00000434560.2:p.Val98Leu
ENST00000646564.2:c.478-12732G>C	ENSP00000495806.2:n.478-12732G>C
ENST00000155840.12:c.553G>C MANE Select	ENSP00000155840.2:p.Val185Leu
ENST00000335475.6:c.172G>C	ENSP00000334497.5:p.Val58Leu
ENST00000646564.1:c.124-12732G>C	ENSP00000495806.1:n.124-12732G>C
ENST00000155840.9:c.553G>C	ENSP00000155840.2:p.Val185Leu
ENST00000335475.5:c.172G>C	ENSP00000334497.5:p.Val58Leu
ENST00000496887.6:c.292G>C	ENSP00000434560.1:p.Val98Leu
NM_000218.2:c.553G>C , LRG_287t1:c.553G>C	NP_000209.2:p.Val185Leu
NM_181798.1:c.172G>C , LRG_287t2:c.172G>C	NP_861463.1:p.Val58Leu
NM_000218.3:c.553G>C MANE Select	NP_000209.2:p.Val185Leu