Canonical Allele Identifier: CA379479599

Gene: KCNQ1 KCNQ1OT1

Linked Data

• MyVariant Identifiers: chr11:g.2683252C>G (hg19) ; chr11:g.2662022C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662022C>G , CM000673.2:g.2662022C>G	GRCh38
NC_000011.9:g.2683252C>G , CM000673.1:g.2683252C>G	GRCh37
NC_000011.8:g.2639828C>G	NCBI36
NG_008935.1:g.222032C>G , LRG_287:g.222032C>G
NG_016178.2:g.42977G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1098C>G (KCNQ1)	ENSP00000434560.2:p.Phe366Leu
ENST00000646564.2:c.915C>G (KCNQ1)	ENSP00000495806.2:p.Phe305Leu
ENST00000155840.12:c.1455C>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Phe485Leu
ENST00000335475.6:c.1074C>G (KCNQ1)	ENSP00000334497.5:p.Phe358Leu
ENST00000646564.1:c.561C>G (KCNQ1)	ENSP00000495806.1:p.Phe187Leu
ENST00000155840.9:c.1455C>G (KCNQ1)	ENSP00000155840.2:p.Phe485Leu
ENST00000335475.5:c.1074C>G (KCNQ1)	ENSP00000334497.5:p.Phe358Leu
NM_000218.2:c.1455C>G , LRG_287t1:c.1455C>G (KCNQ1)	NP_000209.2:p.Phe485Leu
NM_181798.1:c.1074C>G , LRG_287t2:c.1074C>G (KCNQ1)	NP_861463.1:p.Phe358Leu
NR_002728.3:n.37977G>C (KCNQ1OT1)
NM_000218.3:c.1455C>G (KCNQ1) MANE Select	NP_000209.2:p.Phe485Leu