Canonical Allele Identifier: CA379133132

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 449042
• ClinVar RCV Id: RCV000523507 ; RCV001851477
• dbSNP Id: rs1554894481
• gnomAD v4: 11-2583543-G-A
• MyVariant Identifiers: chr11:g.2604773G>A (hg19) ; chr11:g.2583543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583543G>A , CM000673.2:g.2583543G>A	GRCh38
NC_000011.9:g.2604773G>A , CM000673.1:g.2604773G>A	GRCh37
NC_000011.8:g.2561349G>A	NCBI36
NG_008935.1:g.143553G>A , LRG_287:g.143553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.769G>A	ENSP00000434560.2:p.Ala257Thr
ENST00000646564.2:c.586G>A	ENSP00000495806.2:p.Ala196Thr
ENST00000155840.12:c.1030G>A MANE Select	ENSP00000155840.2:p.Ala344Thr
ENST00000335475.6:c.649G>A	ENSP00000334497.5:p.Ala217Thr
ENST00000646564.1:c.232G>A	ENSP00000495806.1:p.Ala78Thr
ENST00000155840.9:c.1030G>A	ENSP00000155840.2:p.Ala344Thr
ENST00000335475.5:c.649G>A	ENSP00000334497.5:p.Ala217Thr
NM_000218.2:c.1030G>A , LRG_287t1:c.1030G>A	NP_000209.2:p.Ala344Thr
NM_181798.1:c.649G>A , LRG_287t2:c.649G>A	NP_861463.1:p.Ala217Thr
NM_000218.3:c.1030G>A MANE Select	NP_000209.2:p.Ala344Thr