Canonical Allele Identifier: CA472464604

Gene: KCNQ1

Linked Data

• COSMIC: COSM4852260 ; COSM4852261
• MyVariant Identifiers: chr11:g.2797249C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776019C>T , CM000673.2:g.2776019C>T	GRCh38
NC_000011.9:g.2797249C>T , CM000673.1:g.2797249C>T	GRCh37
NC_000011.8:g.2753825C>T	NCBI36
NG_008935.1:g.336029C>T , LRG_287:g.336029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1293C>T	ENSP00000434560.2:p.Leu431=
ENST00000646564.2:c.1110C>T	ENSP00000495806.2:p.Leu370=
ENST00000155840.12:c.1650C>T MANE Select	ENSP00000155840.2:p.Leu550=
ENST00000335475.6:c.1269C>T	ENSP00000334497.5:p.Leu423=
ENST00000646564.1:c.756C>T	ENSP00000495806.1:p.Leu252=
ENST00000155840.9:c.1650C>T	ENSP00000155840.2:p.Leu550=
ENST00000335475.5:c.1269C>T	ENSP00000334497.5:p.Leu423=
NM_000218.2:c.1650C>T , LRG_287t1:c.1650C>T	NP_000209.2:p.Leu550=
NM_181798.1:c.1269C>T , LRG_287t2:c.1269C>T	NP_861463.1:p.Leu423=
NM_000218.3:c.1650C>T MANE Select	NP_000209.2:p.Leu550=