Canonical Allele Identifier: CA006465

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 200862
• ClinVar RCV Id: RCV003647759
• dbSNP Id: rs794728541
• MyVariant Identifiers: chr11:g.2869013A>T (hg19) ; chr11:g.2847783A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847783A>T , CM000673.2:g.2847783A>T	GRCh38
NC_000011.9:g.2869013A>T , CM000673.1:g.2869013A>T	GRCh37
NC_000011.8:g.2825589A>T	NCBI36
NG_008935.1:g.407793A>T , LRG_287:g.407793A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1454A>T (KCNQ1)	ENSP00000434560.2:p.Gln485Leu
ENST00000155840.12:c.1811A>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Gln604Leu
ENST00000335475.6:c.1430A>T (KCNQ1)	ENSP00000334497.5:p.Gln477Leu
ENST00000526095.2:c.215A>T (KCNQ1)	ENSP00000494939.1:p.Gln72Leu
ENST00000155840.9:c.1811A>T (KCNQ1)	ENSP00000155840.2:p.Gln604Leu
ENST00000335475.5:c.1430A>T (KCNQ1)	ENSP00000334497.5:p.Gln477Leu
ENST00000526095.1:n.318A>T (KCNQ1)
NM_000218.2:c.1811A>T , LRG_287t1:c.1811A>T (KCNQ1)	NP_000209.2:p.Gln604Leu
NM_181798.1:c.1430A>T , LRG_287t2:c.1430A>T (KCNQ1)	NP_861463.1:p.Gln477Leu
NR_130721.1:n.778-7341T>A (KCNQ1-AS1)
NM_000218.3:c.1811A>T (KCNQ1) MANE Select	NP_000209.2:p.Gln604Leu