Canonical Allele Identifier: CA1110470403
Gene: MFHAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1808795164
gnomAD v3: 8-8864786-A-G
gnomAD v4: 8-8864786-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.8864786A>G , CM000670.2:g.8864786A>G GRCh38
NC_000008.10:g.8722296A>G , CM000670.1:g.8722296A>G GRCh37
NC_000008.9:g.8759706A>G NCBI36
NG_009444.1:g.33836T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000276282.7:c.2998+25275T>C MANE Select ENSP00000276282.6:n.2998+25275T>C
ENST00000276282.6:c.2998+25275T>C ENSP00000276282.6:n.2998+25275T>C
NM_004225.2:c.2998+25275T>C NP_004216.2:n.2998+25275T>C
XR_246634.2:n.3534+25275T>C
XM_024447330.1:c.2998+25275T>C XP_024303098.1:n.2998+25275T>C
NM_004225.3:c.2998+25275T>C MANE Select NP_004216.2:n.2998+25275T>C
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