Canonical Allele Identifier: CA379139103

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2797211G>T (hg19) ; chr11:g.2775981G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2775981G>T , CM000673.2:g.2775981G>T	GRCh38
NC_000011.9:g.2797211G>T , CM000673.1:g.2797211G>T	GRCh37
NC_000011.8:g.2753787G>T	NCBI36
NG_008935.1:g.335991G>T , LRG_287:g.335991G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1255G>T	ENSP00000434560.2:p.Val419Leu
ENST00000646564.2:c.1072G>T	ENSP00000495806.2:p.Val358Leu
ENST00000155840.12:c.1612G>T MANE Select	ENSP00000155840.2:p.Val538Leu
ENST00000335475.6:c.1231G>T	ENSP00000334497.5:p.Val411Leu
ENST00000646564.1:c.718G>T	ENSP00000495806.1:p.Val240Leu
ENST00000155840.9:c.1612G>T	ENSP00000155840.2:p.Val538Leu
ENST00000335475.5:c.1231G>T	ENSP00000334497.5:p.Val411Leu
NM_000218.2:c.1612G>T , LRG_287t1:c.1612G>T	NP_000209.2:p.Val538Leu
NM_181798.1:c.1231G>T , LRG_287t2:c.1231G>T	NP_861463.1:p.Val411Leu
NM_000218.3:c.1612G>T MANE Select	NP_000209.2:p.Val538Leu