Canonical Allele Identifier: CA1948241177

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848328527
• gnomAD v4: 11-2571242-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571242C>T , CM000673.2:g.2571242C>T	GRCh38
NC_000011.9:g.2592472C>T , CM000673.1:g.2592472C>T	GRCh37
NC_000011.8:g.2549048C>T	NCBI36
NG_008935.1:g.131252C>T , LRG_287:g.131252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.344-83C>T	ENSP00000434560.2:n.344-83C>T
ENST00000646564.2:c.478-12193C>T	ENSP00000495806.2:n.478-12193C>T
ENST00000155840.12:c.605-83C>T MANE Select	ENSP00000155840.2:n.605-83C>T
ENST00000335475.6:c.224-83C>T	ENSP00000334497.5:n.224-83C>T
ENST00000646564.1:c.124-12193C>T	ENSP00000495806.1:n.124-12193C>T
ENST00000155840.9:c.605-83C>T	ENSP00000155840.2:n.605-83C>T
ENST00000335475.5:c.224-83C>T	ENSP00000334497.5:n.224-83C>T
ENST00000496887.6:c.344-83C>T	ENSP00000434560.1:n.344-83C>T
NM_000218.2:c.605-83C>T , LRG_287t1:c.605-83C>T	NP_000209.2:n.605-83C>T
NM_181798.1:c.224-83C>T , LRG_287t2:c.224-83C>T	NP_861463.1:n.224-83C>T
NM_000218.3:c.605-83C>T MANE Select	NP_000209.2:n.605-83C>T