Canonical Allele Identifier: CA856517328
Gene: MFHAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1329165815
gnomAD v3: 8-8864839-T-C
gnomAD v4: 8-8864839-T-C
MyVariant Identifiers: chr8:g.8722349T>C (hg19) chr8:g.8864839T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.8864839T>C , CM000670.2:g.8864839T>C GRCh38
NC_000008.10:g.8722349T>C , CM000670.1:g.8722349T>C GRCh37
NC_000008.9:g.8759759T>C NCBI36
NG_009444.1:g.33783A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276282.7:c.2998+25222A>G MANE Select ENSP00000276282.6:n.2998+25222A>G
ENST00000276282.6:c.2998+25222A>G ENSP00000276282.6:n.2998+25222A>G
NM_004225.2:c.2998+25222A>G NP_004216.2:n.2998+25222A>G
XR_246634.2:n.3534+25222A>G
XM_024447330.1:c.2998+25222A>G XP_024303098.1:n.2998+25222A>G
NM_004225.3:c.2998+25222A>G MANE Select NP_004216.2:n.2998+25222A>G
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