Canonical Allele Identifier: CA171602265
Gene: MFHAS1 HGNC NCBI

Linked Data

dbSNP Id: rs529891405
gnomAD v3: 8-8864690-T-C
gnomAD v4: 8-8864690-T-C
MyVariant Identifiers: chr8:g.8722200T>C (hg19) chr8:g.8864690T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.8864690T>C , CM000670.2:g.8864690T>C GRCh38
NC_000008.10:g.8722200T>C , CM000670.1:g.8722200T>C GRCh37
NC_000008.9:g.8759610T>C NCBI36
NG_009444.1:g.33932A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276282.7:c.2998+25371A>G MANE Select ENSP00000276282.6:n.2998+25371A>G
ENST00000276282.6:c.2998+25371A>G ENSP00000276282.6:n.2998+25371A>G
NM_004225.2:c.2998+25371A>G NP_004216.2:n.2998+25371A>G
XR_246634.2:n.3534+25371A>G
XM_024447330.1:c.2998+25371A>G XP_024303098.1:n.2998+25371A>G
NM_004225.3:c.2998+25371A>G MANE Select NP_004216.2:n.2998+25371A>G
Search 100 bp 5'
Search 100 bp 3'