Canonical Allele Identifier: CA216314622

Gene: KCNQ1

Linked Data

• dbSNP Id: rs199905389

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768626_2768630del , CM000673.2:g.2768626_2768630del	GRCh38
NC_000011.9:g.2789856_2789860del , CM000673.1:g.2789856_2789860del	GRCh37
NC_000011.8:g.2746432_2746436del	NCBI36
NG_008935.1:g.328636_328640del , LRG_287:g.328636_328640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-218_1158-214del	ENSP00000434560.2:n.1158-218_1158-214del
ENST00000646564.2:c.975-218_975-214del	ENSP00000495806.2:n.975-218_975-214del
ENST00000155840.12:c.1515-218_1515-214del MANE Select	ENSP00000155840.2:n.1515-218_1515-214del
ENST00000335475.6:c.1134-218_1134-214del	ENSP00000334497.5:n.1134-218_1134-214del
ENST00000646564.1:c.621-218_621-214del	ENSP00000495806.1:n.621-218_621-214del
ENST00000155840.9:c.1515-218_1515-214del	ENSP00000155840.2:n.1515-218_1515-214del
ENST00000335475.5:c.1134-218_1134-214del	ENSP00000334497.5:n.1134-218_1134-214del
NM_000218.2:c.1515-218_1515-214del , LRG_287t1:c.1515-218_1515-214del	NP_000209.2:n.1515-218_1515-214del
NM_181798.1:c.1134-218_1134-214del , LRG_287t2:c.1134-218_1134-214del	NP_861463.1:n.1134-218_1134-214del
NM_000218.3:c.1515-218_1515-214del MANE Select	NP_000209.2:n.1515-218_1515-214del