Canonical Allele Identifier: CA1110470340
Gene: MFHAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1808788817
gnomAD v3: 8-8864582-C-A
gnomAD v4: 8-8864582-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.8864582C>A , CM000670.2:g.8864582C>A GRCh38
NC_000008.10:g.8722092C>A , CM000670.1:g.8722092C>A GRCh37
NC_000008.9:g.8759502C>A NCBI36
NG_009444.1:g.34040G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276282.7:c.2998+25479G>T MANE Select ENSP00000276282.6:n.2998+25479G>T
ENST00000276282.6:c.2998+25479G>T ENSP00000276282.6:n.2998+25479G>T
NM_004225.2:c.2998+25479G>T NP_004216.2:n.2998+25479G>T
XR_246634.2:n.3534+25479G>T
XM_024447330.1:c.2998+25479G>T XP_024303098.1:n.2998+25479G>T
NM_004225.3:c.2998+25479G>T MANE Select NP_004216.2:n.2998+25479G>T
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