Canonical Allele Identifier: CA216315311

Gene: KCNQ1

Linked Data

• dbSNP Id: rs535048769
• gnomAD v3: 11-2769295-G-T
• gnomAD v4: 11-2769295-G-T
• MyVariant Identifiers: chr11:g.2790525G>T (hg19) ; chr11:g.2769295G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2769295G>T , CM000673.2:g.2769295G>T	GRCh38
NC_000011.9:g.2790525G>T , CM000673.1:g.2790525G>T	GRCh37
NC_000011.8:g.2747101G>T	NCBI36
NG_008935.1:g.329305G>T , LRG_287:g.329305G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+376G>T	ENSP00000434560.2:n.1233+376G>T
ENST00000646564.2:c.1050+376G>T	ENSP00000495806.2:n.1050+376G>T
ENST00000155840.12:c.1590+376G>T MANE Select	ENSP00000155840.2:n.1590+376G>T
ENST00000335475.6:c.1209+376G>T	ENSP00000334497.5:n.1209+376G>T
ENST00000646564.1:c.696+376G>T	ENSP00000495806.1:n.696+376G>T
ENST00000155840.9:c.1590+376G>T	ENSP00000155840.2:n.1590+376G>T
ENST00000335475.5:c.1209+376G>T	ENSP00000334497.5:n.1209+376G>T
NM_000218.2:c.1590+376G>T , LRG_287t1:c.1590+376G>T	NP_000209.2:n.1590+376G>T
NM_181798.1:c.1209+376G>T , LRG_287t2:c.1209+376G>T	NP_861463.1:n.1209+376G>T
NM_000218.3:c.1590+376G>T MANE Select	NP_000209.2:n.1590+376G>T