Canonical Allele Identifier: CA379135157

Gene: KCNQ1

Linked Data

• dbSNP Id: rs747704276
• gnomAD v3: 11-2588836-G-C
• gnomAD v4: 11-2588836-G-C
• COSMIC: COSM4135674 ; COSM4135675
• MyVariant Identifiers: chr11:g.2610066G>C (hg19) ; chr11:g.2588836G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588836G>C , CM000673.2:g.2588836G>C	GRCh38
NC_000011.9:g.2610066G>C , CM000673.1:g.2610066G>C	GRCh37
NC_000011.8:g.2566642G>C	NCBI36
NG_008935.1:g.148846G>C , LRG_287:g.148846G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1018G>C	ENSP00000434560.2:p.Asp340His
ENST00000646564.2:c.835G>C	ENSP00000495806.2:p.Asp279His
ENST00000155840.12:c.1375G>C MANE Select	ENSP00000155840.2:p.Asp459His
ENST00000335475.6:c.994G>C	ENSP00000334497.5:p.Asp332His
ENST00000646564.1:c.481G>C	ENSP00000495806.1:p.Asp161His
ENST00000155840.9:c.1375G>C	ENSP00000155840.2:p.Asp459His
ENST00000335475.5:c.994G>C	ENSP00000334497.5:p.Asp332His
NM_000218.2:c.1375G>C , LRG_287t1:c.1375G>C	NP_000209.2:p.Asp459His
NM_181798.1:c.994G>C , LRG_287t2:c.994G>C	NP_861463.1:p.Asp332His
NM_000218.3:c.1375G>C MANE Select	NP_000209.2:p.Asp459His