Canonical Allele Identifier: CA379139004

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2790132G>C (hg19) ; chr11:g.2768902G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768902G>C , CM000673.2:g.2768902G>C	GRCh38
NC_000011.9:g.2790132G>C , CM000673.1:g.2790132G>C	GRCh37
NC_000011.8:g.2746708G>C	NCBI36
NG_008935.1:g.328912G>C , LRG_287:g.328912G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1216G>C	ENSP00000434560.2:p.Ala406Pro
ENST00000646564.2:c.1033G>C	ENSP00000495806.2:p.Ala345Pro
ENST00000155840.12:c.1573G>C MANE Select	ENSP00000155840.2:p.Ala525Pro
ENST00000335475.6:c.1192G>C	ENSP00000334497.5:p.Ala398Pro
ENST00000646564.1:c.679G>C	ENSP00000495806.1:p.Ala227Pro
ENST00000155840.9:c.1573G>C	ENSP00000155840.2:p.Ala525Pro
ENST00000335475.5:c.1192G>C	ENSP00000334497.5:p.Ala398Pro
NM_000218.2:c.1573G>C , LRG_287t1:c.1573G>C	NP_000209.2:p.Ala525Pro
NM_181798.1:c.1192G>C , LRG_287t2:c.1192G>C	NP_861463.1:p.Ala398Pro
NM_000218.3:c.1573G>C MANE Select	NP_000209.2:p.Ala525Pro