Canonical Allele Identifier: CA1110470405
Gene: MFHAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1808795226
gnomAD v3: 8-8864787-G-T
gnomAD v4: 8-8864787-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.8864787G>T , CM000670.2:g.8864787G>T GRCh38
NC_000008.10:g.8722297G>T , CM000670.1:g.8722297G>T GRCh37
NC_000008.9:g.8759707G>T NCBI36
NG_009444.1:g.33835C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000276282.7:c.2998+25274C>A MANE Select ENSP00000276282.6:n.2998+25274C>A
ENST00000276282.6:c.2998+25274C>A ENSP00000276282.6:n.2998+25274C>A
NM_004225.2:c.2998+25274C>A NP_004216.2:n.2998+25274C>A
XR_246634.2:n.3534+25274C>A
XM_024447330.1:c.2998+25274C>A XP_024303098.1:n.2998+25274C>A
NM_004225.3:c.2998+25274C>A MANE Select NP_004216.2:n.2998+25274C>A
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