Canonical Allele Identifier: CA12751387
Gene: MFHAS1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.8859497T>C
GRCh37 chr8:g.8717007T>C
gnomAD v2:
8:8717007 T / C
gnomAD v3:
8:8859497 T / C
gnomAD v4:
chr8-8859497-T-C
Joint Max Group AF 0.29177388 (AFR)
Genomes Max Group AF 0.29177388 (AFR)
dbSNP:
332034
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Genomic Alleles

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

Transcript Alleles

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