Canonical Allele Identifier: CA1071269303
Gene: HAFML HGNC NCBI

Linked Data

dbSNP Id: rs1733729593
gnomAD v3: 4-176666489-C-T
gnomAD v4: 4-176666489-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.176666489C>T , CM000666.2:g.176666489C>T GRCh38
NC_000004.11:g.177587640C>T , CM000666.1:g.177587640C>T GRCh37
NC_000004.10:g.177824634C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939498.1:n.121-3132C>T
XR_939499.1:n.121-3132C>T
XR_939498.2:n.208-3132C>T
XR_939499.2:n.204-3132C>T
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