Canonical Allele Identifier: CA597101302

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1359645240
• gnomAD v2: 11-2549269-T-C
• gnomAD v4: 11-2528039-T-C
• MyVariant Identifiers: chr11:g.2549269T>C (hg19) ; chr11:g.2528039T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528039T>C , CM000673.2:g.2528039T>C	GRCh38
NC_000011.9:g.2549269T>C , CM000673.1:g.2549269T>C	GRCh37
NC_000011.8:g.2505845T>C	NCBI36
NG_008935.1:g.88049T>C , LRG_287:g.88049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.216+21T>C	ENSP00000434560.2:n.216+21T>C
ENST00000646564.2:c.477+21T>C	ENSP00000495806.2:n.477+21T>C
ENST00000155840.12:c.477+21T>C MANE Select	ENSP00000155840.2:n.477+21T>C
ENST00000335475.6:c.96+21T>C	ENSP00000334497.5:n.96+21T>C
ENST00000646564.1:c.123+21T>C	ENSP00000495806.1:n.123+21T>C
ENST00000155840.9:c.477+21T>C	ENSP00000155840.2:n.477+21T>C
ENST00000335475.5:c.96+21T>C	ENSP00000334497.5:n.96+21T>C
ENST00000496887.6:c.216+21T>C	ENSP00000434560.1:n.216+21T>C
NM_000218.2:c.477+21T>C , LRG_287t1:c.477+21T>C	NP_000209.2:n.477+21T>C
NM_181798.1:c.96+21T>C , LRG_287t2:c.96+21T>C	NP_861463.1:n.96+21T>C
NM_000218.3:c.477+21T>C MANE Select	NP_000209.2:n.477+21T>C