Canonical Allele Identifier: CA597101323
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1480777516
gnomAD v2: 11-2549405-C-A
gnomAD v3: 11-2528175-C-A
gnomAD v4: 11-2528175-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2528175C>A , CM000673.2:g.2528175C>A GRCh38
NC_000011.9:g.2549405C>A , CM000673.1:g.2549405C>A GRCh37
NC_000011.8:g.2505981C>A NCBI36
NG_008935.1:g.88185C>A , LRG_287:g.88185C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.216+157C>A ENSP00000434560.2:n.216+157C>A
ENST00000646564.2:c.477+157C>A ENSP00000495806.2:n.477+157C>A
ENST00000155840.12:c.477+157C>A MANE Select ENSP00000155840.2:n.477+157C>A
ENST00000335475.6:c.96+157C>A ENSP00000334497.5:n.96+157C>A
ENST00000646564.1:c.123+157C>A ENSP00000495806.1:n.123+157C>A
ENST00000155840.9:c.477+157C>A ENSP00000155840.2:n.477+157C>A
ENST00000335475.5:c.96+157C>A ENSP00000334497.5:n.96+157C>A
ENST00000496887.6:c.216+157C>A ENSP00000434560.1:n.216+157C>A
NM_000218.2:c.477+157C>A , LRG_287t1:c.477+157C>A NP_000209.2:n.477+157C>A
NM_181798.1:c.96+157C>A , LRG_287t2:c.96+157C>A NP_861463.1:n.96+157C>A
NM_000218.3:c.477+157C>A MANE Select NP_000209.2:n.477+157C>A