Canonical Allele Identifier: CA2631092712
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1986044-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1986044A>G , CM000678.2:g.1986044A>G GRCh38
NC_000016.9:g.2036045A>G , CM000678.1:g.2036045A>G GRCh37
NC_000016.8:g.1976046A>G NCBI36
NG_016288.1:g.6896A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.*16A>G ENSP00000455885.1:n.*16A>G
ENST00000248114.7:c.*16A>G MANE Select ENSP00000248114.6:n.*16A>G
ENST00000248114.6:c.*16A>G ENSP00000248114.6:n.*16A>G
ENST00000565658.1:n.791A>G
ENST00000567719.1:c.*16A>G ENSP00000455885.1:n.*16A>G
ENST00000569451.1:c.*107A>G ENSP00000456432.1:n.*107A>G
NM_005262.2:c.*16A>G NP_005253.3:n.*16A>G
NM_005262.3:c.*16A>G MANE Select NP_005253.3:n.*16A>G
Search 100 bp 5'
Search 100 bp 3'