Canonical Allele Identifier: CA379121198

Gene: KCNQ1

Linked Data

• dbSNP Id: rs199473449
• gnomAD v3: 11-2527938-G-C
• gnomAD v4: 11-2527938-G-C
• MyVariant Identifiers: chr11:g.2549168G>C (hg19) ; chr11:g.2527938G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527938G>C , CM000673.2:g.2527938G>C	GRCh38
NC_000011.9:g.2549168G>C , CM000673.1:g.2549168G>C	GRCh37
NC_000011.8:g.2505744G>C	NCBI36
NG_008935.1:g.87948G>C , LRG_287:g.87948G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.194G>C
ENST00000496887.7:c.136G>C	ENSP00000434560.2:p.Val46Leu
ENST00000646564.2:c.397G>C	ENSP00000495806.2:p.Val133Leu
ENST00000155840.12:c.397G>C MANE Select	ENSP00000155840.2:p.Val133Leu
ENST00000335475.6:c.16G>C	ENSP00000334497.5:p.Val6Leu
ENST00000646564.1:c.43G>C	ENSP00000495806.1:p.Val15Leu
ENST00000155840.9:c.397G>C	ENSP00000155840.2:p.Val133Leu
ENST00000335475.5:c.16G>C	ENSP00000334497.5:p.Val6Leu
ENST00000345015.4:n.266G>C
ENST00000380776.4:c.187G>C	ENSP00000370153.4:p.Val63Leu
ENST00000496887.6:c.136G>C	ENSP00000434560.1:p.Val46Leu
NM_000218.2:c.397G>C , LRG_287t1:c.397G>C	NP_000209.2:p.Val133Leu
NM_181798.1:c.16G>C , LRG_287t2:c.16G>C	NP_861463.1:p.Val6Leu
NM_000218.3:c.397G>C MANE Select	NP_000209.2:p.Val133Leu