Canonical Allele Identifier: CA1071269332
Gene: HAFML HGNC NCBI

Linked Data

dbSNP Id: rs1733730507
gnomAD v3: 4-176666567-G-T
gnomAD v4: 4-176666567-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.176666567G>T , CM000666.2:g.176666567G>T GRCh38
NC_000004.11:g.177587718G>T , CM000666.1:g.177587718G>T GRCh37
NC_000004.10:g.177824712G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939498.1:n.121-3054G>T
XR_939499.1:n.121-3054G>T
XR_939498.2:n.208-3054G>T
XR_939499.2:n.204-3054G>T
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