Canonical Allele Identifier: CA041597
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs763502144
gnomAD v2: 11-2604618-G-A
gnomAD v4: 11-2583388-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583388G>A , CM000673.2:g.2583388G>A GRCh38
NC_000011.9:g.2604618G>A , CM000673.1:g.2604618G>A GRCh37
NC_000011.8:g.2561194G>A NCBI36
NG_008935.1:g.143398G>A , LRG_287:g.143398G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.661-47G>A ENSP00000434560.2:n.661-47G>A
ENST00000646564.2:c.478-47G>A ENSP00000495806.2:n.478-47G>A
ENST00000155840.12:c.922-47G>A MANE Select ENSP00000155840.2:n.922-47G>A
ENST00000335475.6:c.541-47G>A ENSP00000334497.5:n.541-47G>A
ENST00000646564.1:c.124-47G>A ENSP00000495806.1:n.124-47G>A
ENST00000155840.9:c.922-47G>A ENSP00000155840.2:n.922-47G>A
ENST00000335475.5:c.541-47G>A ENSP00000334497.5:n.541-47G>A
NM_000218.2:c.922-47G>A , LRG_287t1:c.922-47G>A NP_000209.2:n.922-47G>A
NM_181798.1:c.541-47G>A , LRG_287t2:c.541-47G>A NP_861463.1:n.541-47G>A
NM_000218.3:c.922-47G>A MANE Select NP_000209.2:n.922-47G>A