Canonical Allele Identifier: CA10634508

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 304263
• ClinVar RCV Id: RCV000263206 ; RCV000312614 ; RCV000352219 ; RCV000367283 ; RCV000403975
• dbSNP Id: rs763163556
• gnomAD v3: 11-2848880-C-G
• gnomAD v4: 11-2848880-C-G
• MyVariant Identifiers: chr11:g.2870110C>G (hg19) ; chr11:g.2848880C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848880C>G , CM000673.2:g.2848880C>G	GRCh38
NC_000011.9:g.2870110C>G , CM000673.1:g.2870110C>G	GRCh37
NC_000011.8:g.2826686C>G	NCBI36
NG_008935.1:g.408890C>G , LRG_287:g.408890C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.*877C>G (KCNQ1)	ENSP00000434560.2:n.*877C>G
ENST00000155840.12:c.*877C>G (KCNQ1) MANE Select	ENSP00000155840.2:n.*877C>G
ENST00000335475.6:c.*877C>G (KCNQ1)	ENSP00000334497.5:n.*877C>G
ENST00000155840.9:c.*877C>G (KCNQ1)	ENSP00000155840.2:n.*877C>G
NM_000218.2:c.*877C>G , LRG_287t1:c.*877C>G (KCNQ1)	NP_000209.2:n.*877C>G
NM_181798.1:c.*877C>G , LRG_287t2:c.*877C>G (KCNQ1)	NP_861463.1:n.*877C>G
NR_130721.1:n.778-8438G>C (KCNQ1-AS1)
NM_000218.3:c.*877C>G (KCNQ1) MANE Select	NP_000209.2:n.*877C>G