Canonical Allele Identifier: CA2790200935

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2463462G>T , CM000673.2:g.2463462G>T	GRCh38
NC_000011.9:g.2484692G>T , CM000673.1:g.2484692G>T	GRCh37
NC_000011.8:g.2441268G>T	NCBI36
NG_008935.1:g.23472G>T , LRG_287:g.23472G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.91+1485G>T
ENST00000496887.7:c.125+17978G>T	ENSP00000434560.2:n.125+17978G>T
ENST00000646564.2:c.386+17978G>T	ENSP00000495806.2:n.386+17978G>T
ENST00000155840.12:c.386+17978G>T MANE Select	ENSP00000155840.2:n.386+17978G>T
ENST00000335475.6:c.5+1748G>T	ENSP00000334497.5:n.5+1748G>T
ENST00000646564.1:c.32+17978G>T	ENSP00000495806.1:n.32+17978G>T
ENST00000155840.9:c.386+17978G>T	ENSP00000155840.2:n.386+17978G>T
ENST00000335475.5:c.5+1748G>T	ENSP00000334497.5:n.5+1748G>T
ENST00000345015.4:n.163+17978G>T
ENST00000380776.4:c.84+1485G>T	ENSP00000370153.4:n.84+1485G>T
ENST00000496887.6:c.125+17978G>T	ENSP00000434560.1:n.125+17978G>T
NM_000218.2:c.386+17978G>T , LRG_287t1:c.386+17978G>T	NP_000209.2:n.386+17978G>T
NM_181798.1:c.5+1748G>T , LRG_287t2:c.5+1748G>T	NP_861463.1:n.5+1748G>T
NM_000218.3:c.386+17978G>T MANE Select	NP_000209.2:n.386+17978G>T