Canonical Allele Identifier: CA2612012026

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2848509-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848509T>C , CM000673.2:g.2848509T>C	GRCh38
NC_000011.9:g.2869739T>C , CM000673.1:g.2869739T>C	GRCh37
NC_000011.8:g.2826315T>C	NCBI36
NG_008935.1:g.408519T>C , LRG_287:g.408519T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*506T>C (KCNQ1)	ENSP00000434560.2:n.*506T>C
ENST00000155840.12:c.*506T>C (KCNQ1) MANE Select	ENSP00000155840.2:n.*506T>C
ENST00000335475.6:c.*506T>C (KCNQ1)	ENSP00000334497.5:n.*506T>C
ENST00000155840.9:c.*506T>C (KCNQ1)	ENSP00000155840.2:n.*506T>C
ENST00000526095.1:n.1044T>C (KCNQ1)
NM_000218.2:c.*506T>C , LRG_287t1:c.*506T>C (KCNQ1)	NP_000209.2:n.*506T>C
NM_181798.1:c.*506T>C , LRG_287t2:c.*506T>C (KCNQ1)	NP_861463.1:n.*506T>C
NR_130721.1:n.778-8067A>G (KCNQ1-AS1)
NM_000218.3:c.*506T>C (KCNQ1) MANE Select	NP_000209.2:n.*506T>C