Canonical Allele Identifier: CA934472027

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1850832472
• gnomAD v3: 11-2702470-T-C
• gnomAD v4: 11-2702470-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2702470T>C , CM000673.2:g.2702470T>C	GRCh38
NC_000011.9:g.2723700T>C , CM000673.1:g.2723700T>C	GRCh37
NC_000011.8:g.2680276T>C	NCBI36
NG_008935.1:g.262480T>C , LRG_287:g.262480T>C
NG_016178.2:g.2529A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1157+40389T>C	ENSP00000434560.2:n.1157+40389T>C
ENST00000646564.2:c.974+40389T>C	ENSP00000495806.2:n.974+40389T>C
ENST00000155840.12:c.1514+40389T>C MANE Select	ENSP00000155840.2:n.1514+40389T>C
ENST00000335475.6:c.1133+40389T>C	ENSP00000334497.5:n.1133+40389T>C
ENST00000646564.1:c.620+40389T>C	ENSP00000495806.1:n.620+40389T>C
ENST00000155840.9:c.1514+40389T>C	ENSP00000155840.2:n.1514+40389T>C
ENST00000335475.5:c.1133+40389T>C	ENSP00000334497.5:n.1133+40389T>C
NM_000218.2:c.1514+40389T>C , LRG_287t1:c.1514+40389T>C	NP_000209.2:n.1514+40389T>C
NM_181798.1:c.1133+40389T>C , LRG_287t2:c.1133+40389T>C	NP_861463.1:n.1133+40389T>C
NM_000218.3:c.1514+40389T>C MANE Select	NP_000209.2:n.1514+40389T>C