Canonical Allele Identifier: CA2592257320
Gene: MFHAS1 HGNC NCBI

Linked Data

gnomAD v3: 8-8864826-G-A
gnomAD v4: 8-8864826-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.8864826G>A , CM000670.2:g.8864826G>A GRCh38
NC_000008.10:g.8722336G>A , CM000670.1:g.8722336G>A GRCh37
NC_000008.9:g.8759746G>A NCBI36
NG_009444.1:g.33796C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276282.7:c.2998+25235C>T MANE Select ENSP00000276282.6:n.2998+25235C>T
ENST00000276282.6:c.2998+25235C>T ENSP00000276282.6:n.2998+25235C>T
NM_004225.2:c.2998+25235C>T NP_004216.2:n.2998+25235C>T
XR_246634.2:n.3534+25235C>T
XM_024447330.1:c.2998+25235C>T XP_024303098.1:n.2998+25235C>T
NM_004225.3:c.2998+25235C>T MANE Select NP_004216.2:n.2998+25235C>T
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