Canonical Allele Identifier: CA379479606

Gene: KCNQ1 KCNQ1OT1

Linked Data

• MyVariant Identifiers: chr11:g.2683254C>A (hg19) ; chr11:g.2662024C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662024C>A , CM000673.2:g.2662024C>A	GRCh38
NC_000011.9:g.2683254C>A , CM000673.1:g.2683254C>A	GRCh37
NC_000011.8:g.2639830C>A	NCBI36
NG_008935.1:g.222034C>A , LRG_287:g.222034C>A
NG_016178.2:g.42975G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1100C>A (KCNQ1)	ENSP00000434560.2:p.Ala367Asp
ENST00000646564.2:c.917C>A (KCNQ1)	ENSP00000495806.2:p.Ala306Asp
ENST00000155840.12:c.1457C>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Ala486Asp
ENST00000335475.6:c.1076C>A (KCNQ1)	ENSP00000334497.5:p.Ala359Asp
ENST00000646564.1:c.563C>A (KCNQ1)	ENSP00000495806.1:p.Ala188Asp
ENST00000155840.9:c.1457C>A (KCNQ1)	ENSP00000155840.2:p.Ala486Asp
ENST00000335475.5:c.1076C>A (KCNQ1)	ENSP00000334497.5:p.Ala359Asp
NM_000218.2:c.1457C>A , LRG_287t1:c.1457C>A (KCNQ1)	NP_000209.2:p.Ala486Asp
NM_181798.1:c.1076C>A , LRG_287t2:c.1076C>A (KCNQ1)	NP_861463.1:p.Ala359Asp
NR_002728.3:n.37975G>T (KCNQ1OT1)
NM_000218.3:c.1457C>A (KCNQ1) MANE Select	NP_000209.2:p.Ala486Asp