Canonical Allele Identifier: CA171602300
Gene: MFHAS1 HGNC NCBI

Linked Data

dbSNP Id: rs965105753
gnomAD v2: 8-8722333-G-C
gnomAD v3: 8-8864823-G-C
gnomAD v4: 8-8864823-G-C
MyVariant Identifiers: chr8:g.8722333G>C (hg19) chr8:g.8864823G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.8864823G>C , CM000670.2:g.8864823G>C GRCh38
NC_000008.10:g.8722333G>C , CM000670.1:g.8722333G>C GRCh37
NC_000008.9:g.8759743G>C NCBI36
NG_009444.1:g.33799C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000276282.7:c.2998+25238C>G MANE Select ENSP00000276282.6:n.2998+25238C>G
ENST00000276282.6:c.2998+25238C>G ENSP00000276282.6:n.2998+25238C>G
NM_004225.2:c.2998+25238C>G NP_004216.2:n.2998+25238C>G
XR_246634.2:n.3534+25238C>G
XM_024447330.1:c.2998+25238C>G XP_024303098.1:n.2998+25238C>G
NM_004225.3:c.2998+25238C>G MANE Select NP_004216.2:n.2998+25238C>G
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