Canonical Allele Identifier: CA007183

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53048
• ClinVar RCV Id: RCV000493008
• dbSNP Id: rs397508111
• MyVariant Identifiers: chr11:g.2549253G>C (hg19) ; chr11:g.2528023G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528023G>C , CM000673.2:g.2528023G>C	GRCh38
NC_000011.9:g.2549253G>C , CM000673.1:g.2549253G>C	GRCh37
NC_000011.8:g.2505829G>C	NCBI36
NG_008935.1:g.88033G>C , LRG_287:g.88033G>C

Transcript Alleles

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