Canonical Allele Identifier: CA171602310
Gene: MFHAS1 HGNC NCBI

Linked Data

dbSNP Id: rs10108954
gnomAD v2: 8-8722378-C-T
gnomAD v3: 8-8864868-C-T
gnomAD v4: 8-8864868-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.8864868C>T , CM000670.2:g.8864868C>T GRCh38
NC_000008.10:g.8722378C>T , CM000670.1:g.8722378C>T GRCh37
NC_000008.9:g.8759788C>T NCBI36
NG_009444.1:g.33754G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000276282.7:c.2998+25193G>A MANE Select ENSP00000276282.6:n.2998+25193G>A
ENST00000276282.6:c.2998+25193G>A ENSP00000276282.6:n.2998+25193G>A
NM_004225.2:c.2998+25193G>A NP_004216.2:n.2998+25193G>A
XR_246634.2:n.3534+25193G>A
XM_024447330.1:c.2998+25193G>A XP_024303098.1:n.2998+25193G>A
NM_004225.3:c.2998+25193G>A MANE Select NP_004216.2:n.2998+25193G>A