Canonical Allele Identifier: CA111347676
Gene: HAFML HGNC NCBI

Linked Data

dbSNP Id: rs372039833
gnomAD v2: 4-177587701-G-A
gnomAD v3: 4-176666550-G-A
gnomAD v4: 4-176666550-G-A
MyVariant Identifiers: chr4:g.177587701G>A (hg19) chr4:g.176666550G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.176666550G>A , CM000666.2:g.176666550G>A GRCh38
NC_000004.11:g.177587701G>A , CM000666.1:g.177587701G>A GRCh37
NC_000004.10:g.177824695G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939498.1:n.121-3071G>A
XR_939499.1:n.121-3071G>A
XR_939498.2:n.208-3071G>A
XR_939499.2:n.204-3071G>A
Search 100 bp 5'
Search 100 bp 3'