Canonical Allele Identifier: CA006128

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776030T>C , CM000673.2:g.2776030T>C	GRCh38
NC_000011.9:g.2797260T>C , CM000673.1:g.2797260T>C	GRCh37
NC_000011.8:g.2753836T>C	NCBI36
NG_008935.1:g.336040T>C , LRG_287:g.336040T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1661T>C MANE Select	NP_000209.2:p.Val554Ala
ENST00000155840.12:c.1661T>C MANE Select	ENSP00000155840.2:p.Val554Ala
NM_000218.2:c.1661T>C , LRG_287t1:c.1661T>C	NP_000209.2:p.Val554Ala
NM_181798.1:c.1280T>C , LRG_287t2:c.1280T>C	NP_861463.1:p.Val427Ala
ENST00000155840.9:c.1661T>C	ENSP00000155840.2:p.Val554Ala
ENST00000335475.5:c.1280T>C	ENSP00000334497.5:p.Val427Ala
ENST00000335475.6:c.1280T>C	ENSP00000334497.5:p.Val427Ala
ENST00000496887.7:c.1304T>C	ENSP00000434560.2:p.Val435Ala
ENST00000646564.1:c.767T>C	ENSP00000495806.1:p.Val256Ala
ENST00000646564.2:c.1121T>C	ENSP00000495806.2:p.Val374Ala