Canonical Allele Identifier: CA379140528

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2847939-G-C
• MyVariant Identifiers: chr11:g.2869169G>C (hg19) ; chr11:g.2847939G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847939G>C , CM000673.2:g.2847939G>C	GRCh38
NC_000011.9:g.2869169G>C , CM000673.1:g.2869169G>C	GRCh37
NC_000011.8:g.2825745G>C	NCBI36
NG_008935.1:g.407949G>C , LRG_287:g.407949G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1610G>C (KCNQ1)	ENSP00000434560.2:p.Ser537Thr
ENST00000155840.12:c.1967G>C (KCNQ1) MANE Select	ENSP00000155840.2:p.Ser656Thr
ENST00000335475.6:c.1586G>C (KCNQ1)	ENSP00000334497.5:p.Ser529Thr
ENST00000526095.2:c.371G>C (KCNQ1)	ENSP00000494939.1:p.Ser124Thr
ENST00000155840.9:c.1967G>C (KCNQ1)	ENSP00000155840.2:p.Ser656Thr
ENST00000335475.5:c.1586G>C (KCNQ1)	ENSP00000334497.5:p.Ser529Thr
ENST00000526095.1:n.474G>C (KCNQ1)
NM_000218.2:c.1967G>C , LRG_287t1:c.1967G>C (KCNQ1)	NP_000209.2:p.Ser656Thr
NM_181798.1:c.1586G>C , LRG_287t2:c.1586G>C (KCNQ1)	NP_861463.1:p.Ser529Thr
NR_130721.1:n.778-7497C>G (KCNQ1-AS1)
NM_000218.3:c.1967G>C (KCNQ1) MANE Select	NP_000209.2:p.Ser656Thr