Canonical Allele Identifier: CA1948236543
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2588902T= , CM000673.2:g.2588902T= GRCh38
NC_000011.9:g.2610132T= , CM000673.1:g.2610132T= GRCh37
NC_000011.8:g.2566708T= NCBI36
NG_008935.1:g.148912T= , LRG_287:g.148912T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1036+48T= ENSP00000434560.2:n.1036+48T=
ENST00000646564.2:c.853+48T= ENSP00000495806.2:n.853+48T=
ENST00000155840.12:c.1393+48T= MANE Select ENSP00000155840.2:n.1393+48T=
ENST00000335475.6:c.1012+48T= ENSP00000334497.5:n.1012+48T=
ENST00000646564.1:c.499+48T= ENSP00000495806.1:n.499+48T=
ENST00000155840.9:c.1393+48T= ENSP00000155840.2:n.1393+48T=
ENST00000335475.5:c.1012+48T= ENSP00000334497.5:n.1012+48T=
NM_000218.2:c.1393+48T= , LRG_287t1:c.1393+48T= NP_000209.2:n.1393+48T=
NM_181798.1:c.1012+48T= , LRG_287t2:c.1012+48T= NP_861463.1:n.1012+48T=
NM_000218.3:c.1393+48T= MANE Select NP_000209.2:n.1393+48T=