Canonical Allele Identifier: CA111347684
Gene: HAFML HGNC NCBI

Linked Data

dbSNP Id: rs536819937
gnomAD v2: 4-177587763-G-C
gnomAD v3: 4-176666612-G-C
gnomAD v4: 4-176666612-G-C
MyVariant Identifiers: chr4:g.177587763G>C (hg19) chr4:g.176666612G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.176666612G>C , CM000666.2:g.176666612G>C GRCh38
NC_000004.11:g.177587763G>C , CM000666.1:g.177587763G>C GRCh37
NC_000004.10:g.177824757G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939498.1:n.121-3009G>C
XR_939499.1:n.121-3009G>C
XR_939498.2:n.208-3009G>C
XR_939499.2:n.204-3009G>C
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