Canonical Allele Identifier: CA1062643760
Gene:

Linked Data

dbSNP Id: rs1720483415
gnomAD v3: 4-54228468-G-A
gnomAD v4: 4-54228468-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228468G>A , CM000666.2:g.54228468G>A GRCh38
NC_000004.11:g.55094635G>A , CM000666.1:g.55094635G>A GRCh37
NC_000004.10:g.54789392G>A NCBI36
NG_009250.1:g.4372G>A , LRG_309:g.4372G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46457G>A ENSP00000423325.1:n.1018-46457G>A
Search 100 bp 5'
Search 100 bp 3'