Canonical Allele Identifier: CA2612012025

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2848507-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848507A>C , CM000673.2:g.2848507A>C	GRCh38
NC_000011.9:g.2869737A>C , CM000673.1:g.2869737A>C	GRCh37
NC_000011.8:g.2826313A>C	NCBI36
NG_008935.1:g.408517A>C , LRG_287:g.408517A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.*504A>C (KCNQ1)	ENSP00000434560.2:n.*504A>C
ENST00000155840.12:c.*504A>C (KCNQ1) MANE Select	ENSP00000155840.2:n.*504A>C
ENST00000335475.6:c.*504A>C (KCNQ1)	ENSP00000334497.5:n.*504A>C
ENST00000155840.9:c.*504A>C (KCNQ1)	ENSP00000155840.2:n.*504A>C
ENST00000526095.1:n.1042A>C (KCNQ1)
NM_000218.2:c.*504A>C , LRG_287t1:c.*504A>C (KCNQ1)	NP_000209.2:n.*504A>C
NM_181798.1:c.*504A>C , LRG_287t2:c.*504A>C (KCNQ1)	NP_861463.1:n.*504A>C
NR_130721.1:n.778-8065T>G (KCNQ1-AS1)
NM_000218.3:c.*504A>C (KCNQ1) MANE Select	NP_000209.2:n.*504A>C