Canonical Allele Identifier: CA034703

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 304239
• ClinVar RCV Id: RCV000261351 ; RCV000267398 ; RCV000324733 ; RCV000353758 ; RCV000359681
• dbSNP Id: rs113029000
• ExAC: 11:2869499 G / A
• gnomAD v2: 11-2869499-G-A
• gnomAD v3: 11-2848269-G-A
• gnomAD v4: 11-2848269-G-A
• MyVariant Identifiers: chr11:g.2869499G>A (hg19) ; chr11:g.2848269G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848269G>A , CM000673.2:g.2848269G>A	GRCh38
NC_000011.9:g.2869499G>A , CM000673.1:g.2869499G>A	GRCh37
NC_000011.8:g.2826075G>A	NCBI36
NG_008935.1:g.408279G>A , LRG_287:g.408279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*266G>A (KCNQ1)	ENSP00000434560.2:n.*266G>A
ENST00000155840.12:c.*266G>A (KCNQ1) MANE Select	ENSP00000155840.2:n.*266G>A
ENST00000335475.6:c.*266G>A (KCNQ1)	ENSP00000334497.5:n.*266G>A
ENST00000526095.2:c.*266G>A (KCNQ1)	ENSP00000494939.1:n.*266G>A
ENST00000155840.9:c.*266G>A (KCNQ1)	ENSP00000155840.2:n.*266G>A
ENST00000526095.1:n.804G>A (KCNQ1)
NM_000218.2:c.*266G>A , LRG_287t1:c.*266G>A (KCNQ1)	NP_000209.2:n.*266G>A
NM_181798.1:c.*266G>A , LRG_287t2:c.*266G>A (KCNQ1)	NP_861463.1:n.*266G>A
NR_130721.1:n.778-7827C>T (KCNQ1-AS1)
NM_000218.3:c.*266G>A (KCNQ1) MANE Select	NP_000209.2:n.*266G>A