Canonical Allele Identifier: CA040895

Gene: KCNQ1

Linked Data

• dbSNP Id: rs761225039
• ExAC: 11:2594126 G / C
• gnomAD v2: 11-2594126-G-C
• gnomAD v4: 11-2572896-G-C
• MyVariant Identifiers: chr11:g.2594126G>C (hg19) ; chr11:g.2572896G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572896G>C , CM000673.2:g.2572896G>C	GRCh38
NC_000011.9:g.2594126G>C , CM000673.1:g.2594126G>C	GRCh37
NC_000011.8:g.2550702G>C	NCBI36
NG_008935.1:g.132906G>C , LRG_287:g.132906G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.570G>C	ENSP00000434560.2:p.Ser190=
ENST00000646564.2:c.478-10539G>C	ENSP00000495806.2:n.478-10539G>C
ENST00000155840.12:c.831G>C MANE Select	ENSP00000155840.2:p.Ser277=
ENST00000335475.6:c.450G>C	ENSP00000334497.5:p.Ser150=
ENST00000646564.1:c.124-10539G>C	ENSP00000495806.1:n.124-10539G>C
ENST00000155840.9:c.831G>C	ENSP00000155840.2:p.Ser277=
ENST00000335475.5:c.450G>C	ENSP00000334497.5:p.Ser150=
ENST00000496887.6:c.570G>C	ENSP00000434560.1:p.Ser190=
NM_000218.2:c.831G>C , LRG_287t1:c.831G>C	NP_000209.2:p.Ser277=
NM_181798.1:c.450G>C , LRG_287t2:c.450G>C	NP_861463.1:p.Ser150=
NM_000218.3:c.831G>C MANE Select	NP_000209.2:p.Ser277=