Canonical Allele Identifier: CA379117544

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2466663A>C (hg19) ; chr11:g.2445433A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445433A>C , CM000673.2:g.2445433A>C	GRCh38
NC_000011.9:g.2466663A>C , CM000673.1:g.2466663A>C	GRCh37
NC_000011.8:g.2423239A>C	NCBI36
NG_008935.1:g.5443A>C , LRG_287:g.5443A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.74A>C	ENSP00000434560.2:p.Asn25Thr
ENST00000646564.2:c.335A>C	ENSP00000495806.2:p.Asn112Thr
ENST00000155840.12:c.335A>C MANE Select	ENSP00000155840.2:p.Asn112Thr
ENST00000155840.9:c.335A>C	ENSP00000155840.2:p.Asn112Thr
ENST00000345015.4:n.112A>C
ENST00000496887.6:c.74A>C	ENSP00000434560.1:p.Asn25Thr
NM_000218.2:c.335A>C , LRG_287t1:c.335A>C	NP_000209.2:p.Asn112Thr
NM_000218.3:c.335A>C MANE Select	NP_000209.2:p.Asn112Thr