Canonical Allele Identifier: CA111347708

Gene: HAFML

Linked Data

• dbSNP Id: rs1000718171
• gnomAD v2: 4-177587980-A-G
• gnomAD v3: 4-176666829-A-G
• gnomAD v4: 4-176666829-A-G
• MyVariant Identifiers: chr4:g.177587980A>G (hg19) ; chr4:g.176666829A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.176666829A>G , CM000666.2:g.176666829A>G	GRCh38
NC_000004.11:g.177587980A>G , CM000666.1:g.177587980A>G	GRCh37
NC_000004.10:g.177824974A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939498.1:n.121-2792A>G
XR_939499.1:n.121-2792A>G
XR_939498.2:n.208-2792A>G
XR_939499.2:n.204-2792A>G