Canonical Allele Identifier: CA379135043

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2610009G>C (hg19) ; chr11:g.2588779G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588779G>C , CM000673.2:g.2588779G>C	GRCh38
NC_000011.9:g.2610009G>C , CM000673.1:g.2610009G>C	GRCh37
NC_000011.8:g.2566585G>C	NCBI36
NG_008935.1:g.148789G>C , LRG_287:g.148789G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.961G>C	ENSP00000434560.2:p.Val321Leu
ENST00000646564.2:c.778G>C	ENSP00000495806.2:p.Val260Leu
ENST00000155840.12:c.1318G>C MANE Select	ENSP00000155840.2:p.Val440Leu
ENST00000335475.6:c.937G>C	ENSP00000334497.5:p.Val313Leu
ENST00000646564.1:c.424G>C	ENSP00000495806.1:p.Val142Leu
ENST00000155840.9:c.1318G>C	ENSP00000155840.2:p.Val440Leu
ENST00000335475.5:c.937G>C	ENSP00000334497.5:p.Val313Leu
NM_000218.2:c.1318G>C , LRG_287t1:c.1318G>C	NP_000209.2:p.Val440Leu
NM_181798.1:c.937G>C , LRG_287t2:c.937G>C	NP_861463.1:p.Val313Leu
NM_000218.3:c.1318G>C MANE Select	NP_000209.2:p.Val440Leu