Canonical Allele Identifier: CA111347657
Gene: HAFML HGNC NCBI

Linked Data

dbSNP Id: rs184401287
gnomAD v2: 4-177587530-G-A
gnomAD v3: 4-176666379-G-A
gnomAD v4: 4-176666379-G-A
MyVariant Identifiers: chr4:g.177587530G>A (hg19) chr4:g.176666379G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.176666379G>A , CM000666.2:g.176666379G>A GRCh38
NC_000004.11:g.177587530G>A , CM000666.1:g.177587530G>A GRCh37
NC_000004.10:g.177824524G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939498.1:n.121-3242G>A
XR_939499.1:n.121-3242G>A
XR_939498.2:n.208-3242G>A
XR_939499.2:n.204-3242G>A
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