Canonical Allele Identifier: CA800736811
Gene:

Linked Data

dbSNP Id: rs1280080308
gnomAD v3: 4-99474301-C-T
gnomAD v4: 4-99474301-C-T
MyVariant Identifiers: chr4:g.100395458C>T (hg19) chr4:g.99474301C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474301C>T , CM000666.2:g.99474301C>T GRCh38
NC_000004.11:g.100395458C>T , CM000666.1:g.100395458C>T GRCh37
NC_000004.10:g.100614481C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.243-2439G>A
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Search 100 bp 3'