Canonical Allele Identifier: CA394303979
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1985911-A-C
MyVariant Identifiers: chr16:g.2035912A>C (hg19) chr16:g.1985911A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985911A>C , CM000678.2:g.1985911A>C GRCh38
NC_000016.9:g.2035912A>C , CM000678.1:g.2035912A>C GRCh37
NC_000016.8:g.1975913A>C NCBI36
NG_016288.1:g.6763A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.276A>C ENSP00000455885.1:p.Thr92=
ENST00000248114.7:c.501A>C MANE Select ENSP00000248114.6:p.Thr167=
ENST00000248114.6:c.501A>C ENSP00000248114.6:p.Thr167=
ENST00000565658.1:n.658A>C
ENST00000567719.1:c.276A>C ENSP00000455885.1:p.Thr92=
ENST00000569451.1:c.304A>C ENSP00000456432.1:p.Thr102Pro
NM_005262.2:c.501A>C NP_005253.3:p.Thr167=
NM_005262.3:c.501A>C MANE Select NP_005253.3:p.Thr167=
Search 100 bp 5'
Search 100 bp 3'