Canonical Allele Identifier: CA379139165

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2776011-G-C
• MyVariant Identifiers: chr11:g.2797241G>C (hg19) ; chr11:g.2776011G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776011G>C , CM000673.2:g.2776011G>C	GRCh38
NC_000011.9:g.2797241G>C , CM000673.1:g.2797241G>C	GRCh37
NC_000011.8:g.2753817G>C	NCBI36
NG_008935.1:g.336021G>C , LRG_287:g.336021G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1285G>C	ENSP00000434560.2:p.Gly429Arg
ENST00000646564.2:c.1102G>C	ENSP00000495806.2:p.Gly368Arg
ENST00000155840.12:c.1642G>C MANE Select	ENSP00000155840.2:p.Gly548Arg
ENST00000335475.6:c.1261G>C	ENSP00000334497.5:p.Gly421Arg
ENST00000646564.1:c.748G>C	ENSP00000495806.1:p.Gly250Arg
ENST00000155840.9:c.1642G>C	ENSP00000155840.2:p.Gly548Arg
ENST00000335475.5:c.1261G>C	ENSP00000334497.5:p.Gly421Arg
NM_000218.2:c.1642G>C , LRG_287t1:c.1642G>C	NP_000209.2:p.Gly548Arg
NM_181798.1:c.1261G>C , LRG_287t2:c.1261G>C	NP_861463.1:p.Gly421Arg
NM_000218.3:c.1642G>C MANE Select	NP_000209.2:p.Gly548Arg