Canonical Allele Identifier: CA379134879

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587690G>C , CM000673.2:g.2587690G>C	GRCh38
NC_000011.9:g.2608920G>C , CM000673.1:g.2608920G>C	GRCh37
NC_000011.8:g.2565496G>C	NCBI36
NG_008935.1:g.147700G>C , LRG_287:g.147700G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1249G>C MANE Select	NP_000209.2:p.Val417Leu
ENST00000155840.12:c.1249G>C MANE Select	ENSP00000155840.2:p.Val417Leu
NM_000218.2:c.1249G>C , LRG_287t1:c.1249G>C	NP_000209.2:p.Val417Leu
NM_181798.1:c.868G>C , LRG_287t2:c.868G>C	NP_861463.1:p.Val290Leu
ENST00000155840.9:c.1249G>C	ENSP00000155840.2:p.Val417Leu
ENST00000335475.5:c.868G>C	ENSP00000334497.5:p.Val290Leu
ENST00000335475.6:c.868G>C	ENSP00000334497.5:p.Val290Leu
ENST00000496887.7:c.892G>C	ENSP00000434560.2:p.Val298Leu
ENST00000646564.1:c.355G>C	ENSP00000495806.1:p.Val119Leu
ENST00000646564.2:c.709G>C	ENSP00000495806.2:p.Val237Leu