Canonical Allele Identifier: CA379139079

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1846687905
• gnomAD v4: 11-2775971-G-T
• MyVariant Identifiers: chr11:g.2797201G>T (hg19) ; chr11:g.2775971G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2775971G>T , CM000673.2:g.2775971G>T	GRCh38
NC_000011.9:g.2797201G>T , CM000673.1:g.2797201G>T	GRCh37
NC_000011.8:g.2753777G>T	NCBI36
NG_008935.1:g.335981G>T , LRG_287:g.335981G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1245G>T	ENSP00000434560.2:p.Lys415Asn
ENST00000646564.2:c.1062G>T	ENSP00000495806.2:p.Lys354Asn
ENST00000155840.12:c.1602G>T MANE Select	ENSP00000155840.2:p.Lys534Asn
ENST00000335475.6:c.1221G>T	ENSP00000334497.5:p.Lys407Asn
ENST00000646564.1:c.708G>T	ENSP00000495806.1:p.Lys236Asn
ENST00000155840.9:c.1602G>T	ENSP00000155840.2:p.Lys534Asn
ENST00000335475.5:c.1221G>T	ENSP00000334497.5:p.Lys407Asn
NM_000218.2:c.1602G>T , LRG_287t1:c.1602G>T	NP_000209.2:p.Lys534Asn
NM_181798.1:c.1221G>T , LRG_287t2:c.1221G>T	NP_861463.1:p.Lys407Asn
NM_000218.3:c.1602G>T MANE Select	NP_000209.2:p.Lys534Asn