Canonical Allele Identifier: CA111347674

Gene: HAFML

Linked Data

• dbSNP Id: rs1000772479
• gnomAD v3: 4-176666537-T-C
• gnomAD v4: 4-176666537-T-C
• MyVariant Identifiers: chr4:g.177587688T>C (hg19) ; chr4:g.176666537T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.176666537T>C , CM000666.2:g.176666537T>C	GRCh38
NC_000004.11:g.177587688T>C , CM000666.1:g.177587688T>C	GRCh37
NC_000004.10:g.177824682T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939498.1:n.121-3084T>C
XR_939499.1:n.121-3084T>C
XR_939498.2:n.208-3084T>C
XR_939499.2:n.204-3084T>C