Canonical Allele Identifier: CA579706105
Gene: MFHAS1 HGNC NCBI

Linked Data

dbSNP Id: rs977863999
gnomAD v2: 8-8722361-G-T
gnomAD v3: 8-8864851-G-T
gnomAD v4: 8-8864851-G-T
MyVariant Identifiers: chr8:g.8722361G>T (hg19) chr8:g.8864851G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.8864851G>T , CM000670.2:g.8864851G>T GRCh38
NC_000008.10:g.8722361G>T , CM000670.1:g.8722361G>T GRCh37
NC_000008.9:g.8759771G>T NCBI36
NG_009444.1:g.33771C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276282.7:c.2998+25210C>A MANE Select ENSP00000276282.6:n.2998+25210C>A
ENST00000276282.6:c.2998+25210C>A ENSP00000276282.6:n.2998+25210C>A
NM_004225.2:c.2998+25210C>A NP_004216.2:n.2998+25210C>A
XR_246634.2:n.3534+25210C>A
XM_024447330.1:c.2998+25210C>A XP_024303098.1:n.2998+25210C>A
NM_004225.3:c.2998+25210C>A MANE Select NP_004216.2:n.2998+25210C>A
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