Canonical Allele Identifier: CA579706103
Gene: MFHAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1196043687
gnomAD v2: 8-8722300-A-G
MyVariant Identifiers: chr8:g.8722300A>G (hg19) chr8:g.8864790A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.8864790A>G , CM000670.2:g.8864790A>G GRCh38
NC_000008.10:g.8722300A>G , CM000670.1:g.8722300A>G GRCh37
NC_000008.9:g.8759710A>G NCBI36
NG_009444.1:g.33832T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000276282.7:c.2998+25271T>C MANE Select ENSP00000276282.6:n.2998+25271T>C
ENST00000276282.6:c.2998+25271T>C ENSP00000276282.6:n.2998+25271T>C
NM_004225.2:c.2998+25271T>C NP_004216.2:n.2998+25271T>C
XR_246634.2:n.3534+25271T>C
XM_024447330.1:c.2998+25271T>C XP_024303098.1:n.2998+25271T>C
NM_004225.3:c.2998+25271T>C MANE Select NP_004216.2:n.2998+25271T>C
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