Canonical Allele Identifier: CA556731637

Gene: HAFML

Linked Data

• dbSNP Id: rs1432596484
• gnomAD v2: 4-177587624-C-T
• gnomAD v3: 4-176666473-C-T
• gnomAD v4: 4-176666473-C-T
• MyVariant Identifiers: chr4:g.177587624C>T (hg19) ; chr4:g.177587624_177587631delinsTCAAACAG (hg19) ; chr4:g.176666473C>T (hg38) ; chr4:g.176666473_176666480delinsTCAAACAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.176666473C>T , CM000666.2:g.176666473C>T	GRCh38
NC_000004.11:g.177587624C>T , CM000666.1:g.177587624C>T	GRCh37
NC_000004.10:g.177824618C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939498.1:n.121-3148C>T
XR_939499.1:n.121-3148C>T
XR_939498.2:n.208-3148C>T
XR_939499.2:n.204-3148C>T