Canonical Allele Identifier: CA379132996

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1310931869
• gnomAD v2: 11-2604698-G-T
• gnomAD v4: 11-2583468-G-T
• MyVariant Identifiers: chr11:g.2604698G>T (hg19) ; chr11:g.2583468G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583468G>T , CM000673.2:g.2583468G>T	GRCh38
NC_000011.9:g.2604698G>T , CM000673.1:g.2604698G>T	GRCh37
NC_000011.8:g.2561274G>T	NCBI36
NG_008935.1:g.143478G>T , LRG_287:g.143478G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.694G>T	ENSP00000434560.2:p.Val232Leu
ENST00000646564.2:c.511G>T	ENSP00000495806.2:p.Val171Leu
ENST00000155840.12:c.955G>T MANE Select	ENSP00000155840.2:p.Val319Leu
ENST00000335475.6:c.574G>T	ENSP00000334497.5:p.Val192Leu
ENST00000646564.1:c.157G>T	ENSP00000495806.1:p.Val53Leu
ENST00000155840.9:c.955G>T	ENSP00000155840.2:p.Val319Leu
ENST00000335475.5:c.574G>T	ENSP00000334497.5:p.Val192Leu
NM_000218.2:c.955G>T , LRG_287t1:c.955G>T	NP_000209.2:p.Val319Leu
NM_181798.1:c.574G>T , LRG_287t2:c.574G>T	NP_861463.1:p.Val192Leu
NM_000218.3:c.955G>T MANE Select	NP_000209.2:p.Val319Leu