Canonical Allele Identifier: CA2631092385
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1985818-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985818A>C , CM000678.2:g.1985818A>C GRCh38
NC_000016.9:g.2035819A>C , CM000678.1:g.2035819A>C GRCh37
NC_000016.8:g.1975820A>C NCBI36
NG_016288.1:g.6670A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.231-48A>C ENSP00000455885.1:n.231-48A>C
ENST00000248114.7:c.456-48A>C MANE Select ENSP00000248114.6:n.456-48A>C
ENST00000248114.6:c.456-48A>C ENSP00000248114.6:n.456-48A>C
ENST00000565658.1:n.613-48A>C
ENST00000567719.1:c.231-48A>C ENSP00000455885.1:n.231-48A>C
ENST00000569451.1:c.259-48A>C ENSP00000456432.1:n.259-48A>C
NM_005262.2:c.456-48A>C NP_005253.3:n.456-48A>C
NM_005262.3:c.456-48A>C MANE Select NP_005253.3:n.456-48A>C
Search 100 bp 5'
Search 100 bp 3'