Canonical Allele Identifier: CA379140358

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs1391025328
• gnomAD v2: 11-2869085-G-C
• MyVariant Identifiers: chr11:g.2869085G>C (hg19) ; chr11:g.2847855G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847855G>C , CM000673.2:g.2847855G>C	GRCh38
NC_000011.9:g.2869085G>C , CM000673.1:g.2869085G>C	GRCh37
NC_000011.8:g.2825661G>C	NCBI36
NG_008935.1:g.407865G>C , LRG_287:g.407865G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1526G>C (KCNQ1)	ENSP00000434560.2:p.Gly509Ala
ENST00000155840.12:c.1883G>C (KCNQ1) MANE Select	ENSP00000155840.2:p.Gly628Ala
ENST00000335475.6:c.1502G>C (KCNQ1)	ENSP00000334497.5:p.Gly501Ala
ENST00000526095.2:c.287G>C (KCNQ1)	ENSP00000494939.1:p.Gly96Ala
ENST00000155840.9:c.1883G>C (KCNQ1)	ENSP00000155840.2:p.Gly628Ala
ENST00000335475.5:c.1502G>C (KCNQ1)	ENSP00000334497.5:p.Gly501Ala
ENST00000526095.1:n.390G>C (KCNQ1)
NM_000218.2:c.1883G>C , LRG_287t1:c.1883G>C (KCNQ1)	NP_000209.2:p.Gly628Ala
NM_181798.1:c.1502G>C , LRG_287t2:c.1502G>C (KCNQ1)	NP_861463.1:p.Gly501Ala
NR_130721.1:n.778-7413C>G (KCNQ1-AS1)
NM_000218.3:c.1883G>C (KCNQ1) MANE Select	NP_000209.2:p.Gly628Ala