Canonical Allele Identifier: CA379129833

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2591879T>C (hg19) ; chr11:g.2570649T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570649T>C , CM000673.2:g.2570649T>C	GRCh38
NC_000011.9:g.2591879T>C , CM000673.1:g.2591879T>C	GRCh37
NC_000011.8:g.2548455T>C	NCBI36
NG_008935.1:g.130659T>C , LRG_287:g.130659T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.238T>C	ENSP00000434560.2:p.Phe80Leu
ENST00000646564.2:c.478-12786T>C	ENSP00000495806.2:n.478-12786T>C
ENST00000155840.12:c.499T>C MANE Select	ENSP00000155840.2:p.Phe167Leu
ENST00000335475.6:c.118T>C	ENSP00000334497.5:p.Phe40Leu
ENST00000646564.1:c.124-12786T>C	ENSP00000495806.1:n.124-12786T>C
ENST00000155840.9:c.499T>C	ENSP00000155840.2:p.Phe167Leu
ENST00000335475.5:c.118T>C	ENSP00000334497.5:p.Phe40Leu
ENST00000496887.6:c.238T>C	ENSP00000434560.1:p.Phe80Leu
NM_000218.2:c.499T>C , LRG_287t1:c.499T>C	NP_000209.2:p.Phe167Leu
NM_181798.1:c.118T>C , LRG_287t2:c.118T>C	NP_861463.1:p.Phe40Leu
NM_000218.3:c.499T>C MANE Select	NP_000209.2:p.Phe167Leu