Canonical Allele Identifier: CA040916

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 304261
• ClinVar RCV Id: RCV000260634 ; RCV000285283 ; RCV000315822 ; RCV000340166 ; RCV000379709 ; RCV001778895
• dbSNP Id: rs139633955
• ExAC: 11:2870070 G / A
• gnomAD v2: 11-2870070-G-A
• gnomAD v3: 11-2848840-G-A
• gnomAD v4: 11-2848840-G-A
• MyVariant Identifiers: chr11:g.2870070G>A (hg19) ; chr11:g.2848840G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848840G>A , CM000673.2:g.2848840G>A	GRCh38
NC_000011.9:g.2870070G>A , CM000673.1:g.2870070G>A	GRCh37
NC_000011.8:g.2826646G>A	NCBI36
NG_008935.1:g.408850G>A , LRG_287:g.408850G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*837G>A (KCNQ1)	ENSP00000434560.2:n.*837G>A
ENST00000155840.12:c.*837G>A (KCNQ1) MANE Select	ENSP00000155840.2:n.*837G>A
ENST00000335475.6:c.*837G>A (KCNQ1)	ENSP00000334497.5:n.*837G>A
ENST00000155840.9:c.*837G>A (KCNQ1)	ENSP00000155840.2:n.*837G>A
NM_000218.2:c.*837G>A , LRG_287t1:c.*837G>A (KCNQ1)	NP_000209.2:n.*837G>A
NM_181798.1:c.*837G>A , LRG_287t2:c.*837G>A (KCNQ1)	NP_861463.1:n.*837G>A
NR_130721.1:n.778-8398C>T (KCNQ1-AS1)
NM_000218.3:c.*837G>A (KCNQ1) MANE Select	NP_000209.2:n.*837G>A