Canonical Allele Identifier: CA379133115

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583530C>G , CM000673.2:g.2583530C>G	GRCh38
NC_000011.9:g.2604760C>G , CM000673.1:g.2604760C>G	GRCh37
NC_000011.8:g.2561336C>G	NCBI36
NG_008935.1:g.143540C>G , LRG_287:g.143540C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1017C>G MANE Select	NP_000209.2:p.Phe339Leu
ENST00000155840.12:c.1017C>G MANE Select	ENSP00000155840.2:p.Phe339Leu
NM_000218.2:c.1017C>G , LRG_287t1:c.1017C>G	NP_000209.2:p.Phe339Leu
NM_181798.1:c.636C>G , LRG_287t2:c.636C>G	NP_861463.1:p.Phe212Leu
ENST00000155840.9:c.1017C>G	ENSP00000155840.2:p.Phe339Leu
ENST00000335475.5:c.636C>G	ENSP00000334497.5:p.Phe212Leu
ENST00000335475.6:c.636C>G	ENSP00000334497.5:p.Phe212Leu
ENST00000496887.7:c.756C>G	ENSP00000434560.2:p.Phe252Leu
ENST00000646564.1:c.219C>G	ENSP00000495806.1:p.Phe73Leu
ENST00000646564.2:c.573C>G	ENSP00000495806.2:p.Phe191Leu