Canonical Allele Identifier: CA216312678

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 919046
• ClinVar RCV Id: RCV001553100 ; RCV001842669
• dbSNP Id: rs979241598
• gnomAD v4: 11-2572909-C-G
• MyVariant Identifiers: chr11:g.2594139C>G (hg19) ; chr11:g.2572909C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572909C>G , CM000673.2:g.2572909C>G	GRCh38
NC_000011.9:g.2594139C>G , CM000673.1:g.2594139C>G	GRCh37
NC_000011.8:g.2550715C>G	NCBI36
NG_008935.1:g.132919C>G , LRG_287:g.132919C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.583C>G	ENSP00000434560.2:p.Leu195Val
ENST00000646564.2:c.478-10526C>G	ENSP00000495806.2:n.478-10526C>G
ENST00000155840.12:c.844C>G MANE Select	ENSP00000155840.2:p.Leu282Val
ENST00000335475.6:c.463C>G	ENSP00000334497.5:p.Leu155Val
ENST00000646564.1:c.124-10526C>G	ENSP00000495806.1:n.124-10526C>G
ENST00000155840.9:c.844C>G	ENSP00000155840.2:p.Leu282Val
ENST00000335475.5:c.463C>G	ENSP00000334497.5:p.Leu155Val
NM_000218.2:c.844C>G , LRG_287t1:c.844C>G	NP_000209.2:p.Leu282Val
NM_181798.1:c.463C>G , LRG_287t2:c.463C>G	NP_861463.1:p.Leu155Val
NM_000218.3:c.844C>G MANE Select	NP_000209.2:p.Leu282Val