Canonical Allele Identifier: CA379121936

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549216G>C (hg19) ; chr11:g.2527986G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527986G>C , CM000673.2:g.2527986G>C	GRCh38
NC_000011.9:g.2549216G>C , CM000673.1:g.2549216G>C	GRCh37
NC_000011.8:g.2505792G>C	NCBI36
NG_008935.1:g.87996G>C , LRG_287:g.87996G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.184G>C	ENSP00000434560.2:p.Ala62Pro
ENST00000646564.2:c.445G>C	ENSP00000495806.2:p.Ala149Pro
ENST00000155840.12:c.445G>C MANE Select	ENSP00000155840.2:p.Ala149Pro
ENST00000335475.6:c.64G>C	ENSP00000334497.5:p.Ala22Pro
ENST00000646564.1:c.91G>C	ENSP00000495806.1:p.Ala31Pro
ENST00000155840.9:c.445G>C	ENSP00000155840.2:p.Ala149Pro
ENST00000335475.5:c.64G>C	ENSP00000334497.5:p.Ala22Pro
ENST00000496887.6:c.184G>C	ENSP00000434560.1:p.Ala62Pro
NM_000218.2:c.445G>C , LRG_287t1:c.445G>C	NP_000209.2:p.Ala149Pro
NM_181798.1:c.64G>C , LRG_287t2:c.64G>C	NP_861463.1:p.Ala22Pro
NM_000218.3:c.445G>C MANE Select	NP_000209.2:p.Ala149Pro