Canonical Allele Identifier: CA027046

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2502213
• ClinVar RCV Id: RCV003228631
• dbSNP Id: rs556589392
• ExAC: 11:2606499 T / C
• gnomAD v2: 11-2606499-T-C
• gnomAD v3: 11-2585269-T-C
• gnomAD v4: 11-2585269-T-C
• MyVariant Identifiers: chr11:g.2606499T>C (hg19) ; chr11:g.2585269T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585269T>C , CM000673.2:g.2585269T>C	GRCh38
NC_000011.9:g.2606499T>C , CM000673.1:g.2606499T>C	GRCh37
NC_000011.8:g.2563075T>C	NCBI36
NG_008935.1:g.145279T>C , LRG_287:g.145279T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1724T>C	ENSP00000434560.2:n.771+1724T>C
ENST00000646564.2:c.588+1724T>C	ENSP00000495806.2:n.588+1724T>C
ENST00000155840.12:c.1090T>C MANE Select	ENSP00000155840.2:p.Phe364Leu
ENST00000335475.6:c.709T>C	ENSP00000334497.5:p.Phe237Leu
ENST00000646564.1:c.234+1724T>C	ENSP00000495806.1:n.234+1724T>C
ENST00000155840.9:c.1090T>C	ENSP00000155840.2:p.Phe364Leu
ENST00000335475.5:c.709T>C	ENSP00000334497.5:p.Phe237Leu
NM_000218.2:c.1090T>C , LRG_287t1:c.1090T>C	NP_000209.2:p.Phe364Leu
NM_181798.1:c.709T>C , LRG_287t2:c.709T>C	NP_861463.1:p.Phe237Leu
NM_000218.3:c.1090T>C MANE Select	NP_000209.2:p.Phe364Leu