Canonical Allele Identifier: CA041331

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 304267
• ClinVar RCV Id: RCV000297878 ; RCV000336717 ; RCV000361985 ; RCV000402784 ; RCV000403186
• dbSNP Id: rs186055804
• ExAC: 11:2870137 T / C
• gnomAD v2: 11-2870137-T-C
• gnomAD v3: 11-2848907-T-C
• gnomAD v4: 11-2848907-T-C
• MyVariant Identifiers: chr11:g.2870137T>C (hg19) ; chr11:g.2848907T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848907T>C , CM000673.2:g.2848907T>C	GRCh38
NC_000011.9:g.2870137T>C , CM000673.1:g.2870137T>C	GRCh37
NC_000011.8:g.2826713T>C	NCBI36
NG_008935.1:g.408917T>C , LRG_287:g.408917T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*904T>C (KCNQ1)	ENSP00000434560.2:n.*904T>C
ENST00000155840.12:c.*904T>C (KCNQ1) MANE Select	ENSP00000155840.2:n.*904T>C
ENST00000335475.6:c.*904T>C (KCNQ1)	ENSP00000334497.5:n.*904T>C
ENST00000155840.9:c.*904T>C (KCNQ1)	ENSP00000155840.2:n.*904T>C
NM_000218.2:c.*904T>C , LRG_287t1:c.*904T>C (KCNQ1)	NP_000209.2:n.*904T>C
NM_181798.1:c.*904T>C , LRG_287t2:c.*904T>C (KCNQ1)	NP_861463.1:n.*904T>C
NR_130721.1:n.778-8465A>G (KCNQ1-AS1)
NM_000218.3:c.*904T>C (KCNQ1) MANE Select	NP_000209.2:n.*904T>C