Canonical Allele Identifier: CA171599303
Gene: MFHAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.8859497T>A
GRCh37 chr8:g.8717007T>A
gnomAD v2:
8:8717007 T / A
gnomAD v3:
8:8859497 T / A
gnomAD v4:
chr8-8859497-T-A
Joint Max Group AF 0.00671928 (AFR)
Genomes Max Group AF 0.00671928 (AFR)
dbSNP:
332034
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.8859497T>A , CM000670.2:g.8859497T>A GRCh38
NC_000008.10:g.8717007T>A , CM000670.1:g.8717007T>A GRCh37
NC_000008.9:g.8754417T>A NCBI36
NG_009444.1:g.39125A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276282.7:c.2998+30564A>T MANE Select ENSP00000276282.6:n.2998+30564A>T
ENST00000276282.6:c.2998+30564A>T ENSP00000276282.6:n.2998+30564A>T
ENST00000521881.5:n.42+493A>T
NM_004225.2:c.2998+30564A>T NP_004216.2:n.2998+30564A>T
XR_246634.2:n.3534+30564A>T
XM_024447330.1:c.2998+30564A>T XP_024303098.1:n.2998+30564A>T
NM_004225.3:c.2998+30564A>T MANE Select NP_004216.2:n.2998+30564A>T
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