Canonical Allele Identifier: CA379138973

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768888T>C , CM000673.2:g.2768888T>C	GRCh38
NC_000011.9:g.2790118T>C , CM000673.1:g.2790118T>C	GRCh37
NC_000011.8:g.2746694T>C	NCBI36
NG_008935.1:g.328898T>C , LRG_287:g.328898T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1559T>C MANE Select	NP_000209.2:p.Met520Thr
ENST00000155840.12:c.1559T>C MANE Select	ENSP00000155840.2:p.Met520Thr
NM_000218.2:c.1559T>C , LRG_287t1:c.1559T>C	NP_000209.2:p.Met520Thr
NM_181798.1:c.1178T>C , LRG_287t2:c.1178T>C	NP_861463.1:p.Met393Thr
ENST00000155840.9:c.1559T>C	ENSP00000155840.2:p.Met520Thr
ENST00000335475.5:c.1178T>C	ENSP00000334497.5:p.Met393Thr
ENST00000335475.6:c.1178T>C	ENSP00000334497.5:p.Met393Thr
ENST00000496887.7:c.1202T>C	ENSP00000434560.2:p.Met401Thr
ENST00000646564.1:c.665T>C	ENSP00000495806.1:p.Met222Thr
ENST00000646564.2:c.1019T>C	ENSP00000495806.2:p.Met340Thr