Canonical Allele Identifier: CA2723273860

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs2134098435

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848282T>C , CM000673.2:g.2848282T>C	GRCh38
NC_000011.9:g.2869512T>C , CM000673.1:g.2869512T>C	GRCh37
NC_000011.8:g.2826088T>C	NCBI36
NG_008935.1:g.408292T>C , LRG_287:g.408292T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*279T>C (KCNQ1)	ENSP00000434560.2:n.*279T>C
ENST00000155840.12:c.*279T>C (KCNQ1) MANE Select	ENSP00000155840.2:n.*279T>C
ENST00000335475.6:c.*279T>C (KCNQ1)	ENSP00000334497.5:n.*279T>C
ENST00000526095.2:c.*279T>C (KCNQ1)	ENSP00000494939.1:n.*279T>C
ENST00000155840.9:c.*279T>C (KCNQ1)	ENSP00000155840.2:n.*279T>C
ENST00000526095.1:n.817T>C (KCNQ1)
NM_000218.2:c.*279T>C , LRG_287t1:c.*279T>C (KCNQ1)	NP_000209.2:n.*279T>C
NM_181798.1:c.*279T>C , LRG_287t2:c.*279T>C (KCNQ1)	NP_861463.1:n.*279T>C
NR_130721.1:n.778-7840A>G (KCNQ1-AS1)
NM_000218.3:c.*279T>C (KCNQ1) MANE Select	NP_000209.2:n.*279T>C