Canonical Allele Identifier: CA379116815

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2466552T>G (hg19) ; chr11:g.2445322T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445322T>G , CM000673.2:g.2445322T>G	GRCh38
NC_000011.9:g.2466552T>G , CM000673.1:g.2466552T>G	GRCh37
NC_000011.8:g.2423128T>G	NCBI36
NG_008935.1:g.5332T>G , LRG_287:g.5332T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.24-61T>G	ENSP00000434560.2:n.24-61T>G
ENST00000646564.2:c.224T>G	ENSP00000495806.2:p.Val75Gly
ENST00000155840.12:c.224T>G MANE Select	ENSP00000155840.2:p.Val75Gly
ENST00000155840.9:c.224T>G	ENSP00000155840.2:p.Val75Gly
ENST00000345015.4:n.1T>G
ENST00000496887.6:c.24-61T>G	ENSP00000434560.1:n.24-61T>G
NM_000218.2:c.224T>G , LRG_287t1:c.224T>G	NP_000209.2:p.Val75Gly
NM_000218.3:c.224T>G MANE Select	NP_000209.2:p.Val75Gly