Canonical Allele Identifier: CA216319724

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1010288389
• gnomAD v4: 11-2528168-C-T
• MyVariant Identifiers: chr11:g.2549398C>T (hg19) ; chr11:g.2528168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528168C>T , CM000673.2:g.2528168C>T	GRCh38
NC_000011.9:g.2549398C>T , CM000673.1:g.2549398C>T	GRCh37
NC_000011.8:g.2505974C>T	NCBI36
NG_008935.1:g.88178C>T , LRG_287:g.88178C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.216+150C>T	ENSP00000434560.2:n.216+150C>T
ENST00000646564.2:c.477+150C>T	ENSP00000495806.2:n.477+150C>T
ENST00000155840.12:c.477+150C>T MANE Select	ENSP00000155840.2:n.477+150C>T
ENST00000335475.6:c.96+150C>T	ENSP00000334497.5:n.96+150C>T
ENST00000646564.1:c.123+150C>T	ENSP00000495806.1:n.123+150C>T
ENST00000155840.9:c.477+150C>T	ENSP00000155840.2:n.477+150C>T
ENST00000335475.5:c.96+150C>T	ENSP00000334497.5:n.96+150C>T
ENST00000496887.6:c.216+150C>T	ENSP00000434560.1:n.216+150C>T
NM_000218.2:c.477+150C>T , LRG_287t1:c.477+150C>T	NP_000209.2:n.477+150C>T
NM_181798.1:c.96+150C>T , LRG_287t2:c.96+150C>T	NP_861463.1:n.96+150C>T
NM_000218.3:c.477+150C>T MANE Select	NP_000209.2:n.477+150C>T