Canonical Allele Identifier: CA13406534
Gene: KCNQ1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs231841

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2702374G>T , CM000673.2:g.2702374G>T GRCh38
NC_000011.9:g.2723604G>T , CM000673.1:g.2723604G>T GRCh37
NC_000011.8:g.2680180G>T NCBI36
NG_008935.1:g.262384G>T , LRG_287:g.262384G>T
NG_016178.2:g.2625C>A

Transcript Alleles

HGVS Amino-acid change
NM_000218.2:c.1514+40293G>T , LRG_287t1:c.1514+40293G>T NP_000209.2:p.=
NM_181798.1:c.1133+40293G>T , LRG_287t2:c.1133+40293G>T NP_861463.1:p.=
ENST00000155840.9:c.1514+40293G>T ENSP00000155840.2:p.=
ENST00000335475.5:c.1133+40293G>T ENSP00000334497.5:p.=