Canonical Allele Identifier: CA037408

Gene: KCNQ1

Linked Data

• dbSNP Id: rs754322818
• ExAC: 11:2549271 G / A
• gnomAD v2: 11-2549271-G-A
• gnomAD v4: 11-2528041-G-A
• MyVariant Identifiers: chr11:g.2549271G>A (hg19) ; chr11:g.2528041G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528041G>A , CM000673.2:g.2528041G>A	GRCh38
NC_000011.9:g.2549271G>A , CM000673.1:g.2549271G>A	GRCh37
NC_000011.8:g.2505847G>A	NCBI36
NG_008935.1:g.88051G>A , LRG_287:g.88051G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.216+23G>A	ENSP00000434560.2:n.216+23G>A
ENST00000646564.2:c.477+23G>A	ENSP00000495806.2:n.477+23G>A
ENST00000155840.12:c.477+23G>A MANE Select	ENSP00000155840.2:n.477+23G>A
ENST00000335475.6:c.96+23G>A	ENSP00000334497.5:n.96+23G>A
ENST00000646564.1:c.123+23G>A	ENSP00000495806.1:n.123+23G>A
ENST00000155840.9:c.477+23G>A	ENSP00000155840.2:n.477+23G>A
ENST00000335475.5:c.96+23G>A	ENSP00000334497.5:n.96+23G>A
ENST00000496887.6:c.216+23G>A	ENSP00000434560.1:n.216+23G>A
NM_000218.2:c.477+23G>A , LRG_287t1:c.477+23G>A	NP_000209.2:n.477+23G>A
NM_181798.1:c.96+23G>A , LRG_287t2:c.96+23G>A	NP_861463.1:n.96+23G>A
NM_000218.3:c.477+23G>A MANE Select	NP_000209.2:n.477+23G>A