Canonical Allele Identifier: CA379479480

Gene: KCNQ1 KCNQ1OT1

Linked Data

• dbSNP Id: rs1162587598
• gnomAD v2: 11-2683226-C-A
• gnomAD v3: 11-2661996-C-A
• gnomAD v4: 11-2661996-C-A
• MyVariant Identifiers: chr11:g.2683226C>A (hg19) ; chr11:g.2661996C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661996C>A , CM000673.2:g.2661996C>A	GRCh38
NC_000011.9:g.2683226C>A , CM000673.1:g.2683226C>A	GRCh37
NC_000011.8:g.2639802C>A	NCBI36
NG_008935.1:g.222006C>A , LRG_287:g.222006C>A
NG_016178.2:g.43003G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1072C>A (KCNQ1)	ENSP00000434560.2:p.Pro358Thr
ENST00000646564.2:c.889C>A (KCNQ1)	ENSP00000495806.2:p.Pro297Thr
ENST00000155840.12:c.1429C>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Pro477Thr
ENST00000335475.6:c.1048C>A (KCNQ1)	ENSP00000334497.5:p.Pro350Thr
ENST00000646564.1:c.535C>A (KCNQ1)	ENSP00000495806.1:p.Pro179Thr
ENST00000155840.9:c.1429C>A (KCNQ1)	ENSP00000155840.2:p.Pro477Thr
ENST00000335475.5:c.1048C>A (KCNQ1)	ENSP00000334497.5:p.Pro350Thr
NM_000218.2:c.1429C>A , LRG_287t1:c.1429C>A (KCNQ1)	NP_000209.2:p.Pro477Thr
NM_181798.1:c.1048C>A , LRG_287t2:c.1048C>A (KCNQ1)	NP_861463.1:p.Pro350Thr
NR_002728.3:n.38003G>T (KCNQ1OT1)
NM_000218.3:c.1429C>A (KCNQ1) MANE Select	NP_000209.2:p.Pro477Thr