Canonical Allele Identifier: CA379129856

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2591891T>A (hg19) ; chr11:g.2570661T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570661T>A , CM000673.2:g.2570661T>A	GRCh38
NC_000011.9:g.2591891T>A , CM000673.1:g.2591891T>A	GRCh37
NC_000011.8:g.2548467T>A	NCBI36
NG_008935.1:g.130671T>A , LRG_287:g.130671T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.250T>A	ENSP00000434560.2:p.Tyr84Asn
ENST00000646564.2:c.478-12774T>A	ENSP00000495806.2:n.478-12774T>A
ENST00000155840.12:c.511T>A MANE Select	ENSP00000155840.2:p.Tyr171Asn
ENST00000335475.6:c.130T>A	ENSP00000334497.5:p.Tyr44Asn
ENST00000646564.1:c.124-12774T>A	ENSP00000495806.1:n.124-12774T>A
ENST00000155840.9:c.511T>A	ENSP00000155840.2:p.Tyr171Asn
ENST00000335475.5:c.130T>A	ENSP00000334497.5:p.Tyr44Asn
ENST00000496887.6:c.250T>A	ENSP00000434560.1:p.Tyr84Asn
NM_000218.2:c.511T>A , LRG_287t1:c.511T>A	NP_000209.2:p.Tyr171Asn
NM_181798.1:c.130T>A , LRG_287t2:c.130T>A	NP_861463.1:p.Tyr44Asn
NM_000218.3:c.511T>A MANE Select	NP_000209.2:p.Tyr171Asn