Canonical Allele Identifier: CA472038416

Gene: KCNQ1

Linked Data

• dbSNP Id: rs758194213
• gnomAD v2: 11-2604703-C-G
• MyVariant Identifiers: chr11:g.2604703C>G (hg19) ; chr11:g.2583473C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583473C>G , CM000673.2:g.2583473C>G	GRCh38
NC_000011.9:g.2604703C>G , CM000673.1:g.2604703C>G	GRCh37
NC_000011.8:g.2561279C>G	NCBI36
NG_008935.1:g.143483C>G , LRG_287:g.143483C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.699C>G	ENSP00000434560.2:p.Pro233=
ENST00000646564.2:c.516C>G	ENSP00000495806.2:p.Pro172=
ENST00000155840.12:c.960C>G MANE Select	ENSP00000155840.2:p.Pro320=
ENST00000335475.6:c.579C>G	ENSP00000334497.5:p.Pro193=
ENST00000646564.1:c.162C>G	ENSP00000495806.1:p.Pro54=
ENST00000155840.9:c.960C>G	ENSP00000155840.2:p.Pro320=
ENST00000335475.5:c.579C>G	ENSP00000334497.5:p.Pro193=
NM_000218.2:c.960C>G , LRG_287t1:c.960C>G	NP_000209.2:p.Pro320=
NM_181798.1:c.579C>G , LRG_287t2:c.579C>G	NP_861463.1:p.Pro193=
NM_000218.3:c.960C>G MANE Select	NP_000209.2:p.Pro320=