Canonical Allele Identifier: CA379115563
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1251039411
gnomAD v3: 11-2444686-A-C
gnomAD v4: 11-2444686-A-C
MyVariant Identifiers: chr11:g.2465916A>C (hg19) chr11:g.2444686A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444686A>C , CM000673.2:g.2444686A>C GRCh38
NC_000011.9:g.2465916A>C , CM000673.1:g.2465916A>C GRCh37
NC_000011.8:g.2422492A>C NCBI36
NG_008935.1:g.4696A>C , LRG_287:g.4696A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1A>C ENSP00000434560.2:p.Met1Leu
ENST00000496887.6:c.1A>C ENSP00000434560.1:p.Met1Leu
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