Canonical Allele Identifier: CA379122076

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1847541546
• gnomAD v3: 11-2528005-C-T
• gnomAD v4: 11-2528005-C-T
• MyVariant Identifiers: chr11:g.2549235C>T (hg19) ; chr11:g.2528005C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528005C>T , CM000673.2:g.2528005C>T	GRCh38
NC_000011.9:g.2549235C>T , CM000673.1:g.2549235C>T	GRCh37
NC_000011.8:g.2505811C>T	NCBI36
NG_008935.1:g.88015C>T , LRG_287:g.88015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.203C>T	ENSP00000434560.2:p.Thr68Ile
ENST00000646564.2:c.464C>T	ENSP00000495806.2:p.Thr155Ile
ENST00000155840.12:c.464C>T MANE Select	ENSP00000155840.2:p.Thr155Ile
ENST00000335475.6:c.83C>T	ENSP00000334497.5:p.Thr28Ile
ENST00000646564.1:c.110C>T	ENSP00000495806.1:p.Thr37Ile
ENST00000155840.9:c.464C>T	ENSP00000155840.2:p.Thr155Ile
ENST00000335475.5:c.83C>T	ENSP00000334497.5:p.Thr28Ile
ENST00000496887.6:c.203C>T	ENSP00000434560.1:p.Thr68Ile
NM_000218.2:c.464C>T , LRG_287t1:c.464C>T	NP_000209.2:p.Thr155Ile
NM_181798.1:c.83C>T , LRG_287t2:c.83C>T	NP_861463.1:p.Thr28Ile
NM_000218.3:c.464C>T MANE Select	NP_000209.2:p.Thr155Ile