Canonical Allele Identifier: CA1071269311

Gene: HAFML

Linked Data

• dbSNP Id: rs1733729953
• gnomAD v3: 4-176666530-T-C
• gnomAD v4: 4-176666530-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.176666530T>C , CM000666.2:g.176666530T>C	GRCh38
NC_000004.11:g.177587681T>C , CM000666.1:g.177587681T>C	GRCh37
NC_000004.10:g.177824675T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939498.1:n.121-3091T>C
XR_939499.1:n.121-3091T>C
XR_939498.2:n.208-3091T>C
XR_939499.2:n.204-3091T>C