Canonical Allele Identifier: CA379121128

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549159T>C (hg19) ; chr11:g.2527929T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527929T>C , CM000673.2:g.2527929T>C	GRCh38
NC_000011.9:g.2549159T>C , CM000673.1:g.2549159T>C	GRCh37
NC_000011.8:g.2505735T>C	NCBI36
NG_008935.1:g.87939T>C , LRG_287:g.87939T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.185T>C
ENST00000496887.7:c.127T>C	ENSP00000434560.2:p.Phe43Leu
ENST00000646564.2:c.388T>C	ENSP00000495806.2:p.Phe130Leu
ENST00000155840.12:c.388T>C MANE Select	ENSP00000155840.2:p.Phe130Leu
ENST00000335475.6:c.7T>C	ENSP00000334497.5:p.Phe3Leu
ENST00000646564.1:c.34T>C	ENSP00000495806.1:p.Phe12Leu
ENST00000155840.9:c.388T>C	ENSP00000155840.2:p.Phe130Leu
ENST00000335475.5:c.7T>C	ENSP00000334497.5:p.Phe3Leu
ENST00000345015.4:n.257T>C
ENST00000380776.4:c.178T>C	ENSP00000370153.4:p.Phe60Leu
ENST00000496887.6:c.127T>C	ENSP00000434560.1:p.Phe43Leu
NM_000218.2:c.388T>C , LRG_287t1:c.388T>C	NP_000209.2:p.Phe130Leu
NM_181798.1:c.7T>C , LRG_287t2:c.7T>C	NP_861463.1:p.Phe3Leu
NM_000218.3:c.388T>C MANE Select	NP_000209.2:p.Phe130Leu