Canonical Allele Identifier: CA171602289

Gene: MFHAS1

Linked Data

• dbSNP Id: rs997736690
• MyVariant Identifiers: chr8:g.8722299G>A (hg19) ; chr8:g.8864789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.8864789G>A , CM000670.2:g.8864789G>A	GRCh38
NC_000008.10:g.8722299G>A , CM000670.1:g.8722299G>A	GRCh37
NC_000008.9:g.8759709G>A	NCBI36
NG_009444.1:g.33833C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000276282.7:c.2998+25272C>T MANE Select	ENSP00000276282.6:n.2998+25272C>T
ENST00000276282.6:c.2998+25272C>T	ENSP00000276282.6:n.2998+25272C>T
NM_004225.2:c.2998+25272C>T	NP_004216.2:n.2998+25272C>T
XR_246634.2:n.3534+25272C>T
XM_024447330.1:c.2998+25272C>T	XP_024303098.1:n.2998+25272C>T
NM_004225.3:c.2998+25272C>T MANE Select	NP_004216.2:n.2998+25272C>T