Canonical Allele Identifier: CA171602285

Gene: MFHAS1

Linked Data

• dbSNP Id: rs1039632731
• gnomAD v3: 8-8864778-C-G
• gnomAD v4: 8-8864778-C-G
• MyVariant Identifiers: chr8:g.8722288C>G (hg19) ; chr8:g.8864778C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.8864778C>G , CM000670.2:g.8864778C>G	GRCh38
NC_000008.10:g.8722288C>G , CM000670.1:g.8722288C>G	GRCh37
NC_000008.9:g.8759698C>G	NCBI36
NG_009444.1:g.33844G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000276282.7:c.2998+25283G>C MANE Select	ENSP00000276282.6:n.2998+25283G>C
ENST00000276282.6:c.2998+25283G>C	ENSP00000276282.6:n.2998+25283G>C
NM_004225.2:c.2998+25283G>C	NP_004216.2:n.2998+25283G>C
XR_246634.2:n.3534+25283G>C
XM_024447330.1:c.2998+25283G>C	XP_024303098.1:n.2998+25283G>C
NM_004225.3:c.2998+25283G>C MANE Select	NP_004216.2:n.2998+25283G>C