Canonical Allele Identifier: CA1110470456
Gene: MFHAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1808797752
gnomAD v3: 8-8864859-A-T
gnomAD v4: 8-8864859-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.8864859A>T , CM000670.2:g.8864859A>T GRCh38
NC_000008.10:g.8722369A>T , CM000670.1:g.8722369A>T GRCh37
NC_000008.9:g.8759779A>T NCBI36
NG_009444.1:g.33763T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276282.7:c.2998+25202T>A MANE Select ENSP00000276282.6:n.2998+25202T>A
ENST00000276282.6:c.2998+25202T>A ENSP00000276282.6:n.2998+25202T>A
NM_004225.2:c.2998+25202T>A NP_004216.2:n.2998+25202T>A
XR_246634.2:n.3534+25202T>A
XM_024447330.1:c.2998+25202T>A XP_024303098.1:n.2998+25202T>A
NM_004225.3:c.2998+25202T>A MANE Select NP_004216.2:n.2998+25202T>A
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