Canonical Allele Identifier: CA216361349

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2619110G>C , CM000673.2:g.2619110G>C	GRCh38
NC_000011.9:g.2640340G>C , CM000673.1:g.2640340G>C	GRCh37
NC_000011.8:g.2596916G>C	NCBI36
NG_008935.1:g.179120G>C , LRG_287:g.179120G>C
NG_016178.2:g.85889C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1393+30256G>C (KCNQ1) MANE Select	NP_000209.2:n.1393+30256G>C
ENST00000155840.12:c.1393+30256G>C (KCNQ1) MANE Select	ENSP00000155840.2:n.1393+30256G>C
NM_000218.2:c.1393+30256G>C , LRG_287t1:c.1393+30256G>C (KCNQ1)	NP_000209.2:n.1393+30256G>C
NM_181798.1:c.1012+30256G>C , LRG_287t2:c.1012+30256G>C (KCNQ1)	NP_861463.1:n.1012+30256G>C
NR_002728.3:n.80889C>G (KCNQ1OT1)
ENST00000155840.9:c.1393+30256G>C (KCNQ1)	ENSP00000155840.2:n.1393+30256G>C
ENST00000335475.5:c.1012+30256G>C (KCNQ1)	ENSP00000334497.5:n.1012+30256G>C
ENST00000335475.6:c.1012+30256G>C (KCNQ1)	ENSP00000334497.5:n.1012+30256G>C
ENST00000496887.7:c.1036+30256G>C (KCNQ1)	ENSP00000434560.2:n.1036+30256G>C
ENST00000646564.1:c.499+30256G>C (KCNQ1)	ENSP00000495806.1:n.499+30256G>C
ENST00000646564.2:c.853+30256G>C (KCNQ1)	ENSP00000495806.2:n.853+30256G>C