Canonical Allele Identifier: CA2612009042

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2776106-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776106G>C , CM000673.2:g.2776106G>C	GRCh38
NC_000011.9:g.2797336G>C , CM000673.1:g.2797336G>C	GRCh37
NC_000011.8:g.2753912G>C	NCBI36
NG_008935.1:g.336116G>C , LRG_287:g.336116G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1328+52G>C	ENSP00000434560.2:n.1328+52G>C
ENST00000646564.2:c.1145+52G>C	ENSP00000495806.2:n.1145+52G>C
ENST00000155840.12:c.1685+52G>C MANE Select	ENSP00000155840.2:n.1685+52G>C
ENST00000335475.6:c.1304+52G>C	ENSP00000334497.5:n.1304+52G>C
ENST00000646564.1:c.791+52G>C	ENSP00000495806.1:n.791+52G>C
ENST00000155840.9:c.1685+52G>C	ENSP00000155840.2:n.1685+52G>C
ENST00000335475.5:c.1304+52G>C	ENSP00000334497.5:n.1304+52G>C
NM_000218.2:c.1685+52G>C , LRG_287t1:c.1685+52G>C	NP_000209.2:n.1685+52G>C
NM_181798.1:c.1304+52G>C , LRG_287t2:c.1304+52G>C	NP_861463.1:n.1304+52G>C
NM_000218.3:c.1685+52G>C MANE Select	NP_000209.2:n.1685+52G>C