Canonical Allele Identifier: CA2612003142

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2528162-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528162C>T , CM000673.2:g.2528162C>T	GRCh38
NC_000011.9:g.2549392C>T , CM000673.1:g.2549392C>T	GRCh37
NC_000011.8:g.2505968C>T	NCBI36
NG_008935.1:g.88172C>T , LRG_287:g.88172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.216+144C>T	ENSP00000434560.2:n.216+144C>T
ENST00000646564.2:c.477+144C>T	ENSP00000495806.2:n.477+144C>T
ENST00000155840.12:c.477+144C>T MANE Select	ENSP00000155840.2:n.477+144C>T
ENST00000335475.6:c.96+144C>T	ENSP00000334497.5:n.96+144C>T
ENST00000646564.1:c.123+144C>T	ENSP00000495806.1:n.123+144C>T
ENST00000155840.9:c.477+144C>T	ENSP00000155840.2:n.477+144C>T
ENST00000335475.5:c.96+144C>T	ENSP00000334497.5:n.96+144C>T
ENST00000496887.6:c.216+144C>T	ENSP00000434560.1:n.216+144C>T
NM_000218.2:c.477+144C>T , LRG_287t1:c.477+144C>T	NP_000209.2:n.477+144C>T
NM_181798.1:c.96+144C>T , LRG_287t2:c.96+144C>T	NP_861463.1:n.96+144C>T
NM_000218.3:c.477+144C>T MANE Select	NP_000209.2:n.477+144C>T