Canonical Allele Identifier: CA2723194457

Gene: KCNQ1

Linked Data

• dbSNP Id: rs2133558747

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444930T>C , CM000673.2:g.2444930T>C	GRCh38
NC_000011.9:g.2466160T>C , CM000673.1:g.2466160T>C	GRCh37
NC_000011.8:g.2422736T>C	NCBI36
NG_008935.1:g.4940T>C , LRG_287:g.4940T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+222T>C	ENSP00000434560.2:n.23+222T>C
ENST00000496887.6:c.23+222T>C	ENSP00000434560.1:n.23+222T>C