Canonical Allele Identifier: CA379132979

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 449302
• ClinVar RCV Id: RCV000521598 ; RCV003532152
• dbSNP Id: rs1554894448
• MyVariant Identifiers: chr11:g.2604686T>C (hg19) ; chr11:g.2583456T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583456T>C , CM000673.2:g.2583456T>C	GRCh38
NC_000011.9:g.2604686T>C , CM000673.1:g.2604686T>C	GRCh37
NC_000011.8:g.2561262T>C	NCBI36
NG_008935.1:g.143466T>C , LRG_287:g.143466T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.682T>C	ENSP00000434560.2:p.Tyr228His
ENST00000646564.2:c.499T>C	ENSP00000495806.2:p.Tyr167His
ENST00000155840.12:c.943T>C MANE Select	ENSP00000155840.2:p.Tyr315His
ENST00000335475.6:c.562T>C	ENSP00000334497.5:p.Tyr188His
ENST00000646564.1:c.145T>C	ENSP00000495806.1:p.Tyr49His
ENST00000155840.9:c.943T>C	ENSP00000155840.2:p.Tyr315His
ENST00000335475.5:c.562T>C	ENSP00000334497.5:p.Tyr188His
NM_000218.2:c.943T>C , LRG_287t1:c.943T>C	NP_000209.2:p.Tyr315His
NM_181798.1:c.562T>C , LRG_287t2:c.562T>C	NP_861463.1:p.Tyr188His
NM_000218.3:c.943T>C MANE Select	NP_000209.2:p.Tyr315His