Canonical Allele Identifier: CA2631092355
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1985795-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985795G>T , CM000678.2:g.1985795G>T GRCh38
NC_000016.9:g.2035796G>T , CM000678.1:g.2035796G>T GRCh37
NC_000016.8:g.1975797G>T NCBI36
NG_016288.1:g.6647G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000567719.2:c.231-71G>T ENSP00000455885.1:n.231-71G>T
ENST00000248114.7:c.456-71G>T MANE Select ENSP00000248114.6:n.456-71G>T
ENST00000248114.6:c.456-71G>T ENSP00000248114.6:n.456-71G>T
ENST00000565658.1:n.613-71G>T
ENST00000567719.1:c.231-71G>T ENSP00000455885.1:n.231-71G>T
ENST00000569451.1:c.259-71G>T ENSP00000456432.1:n.259-71G>T
NM_005262.2:c.456-71G>T NP_005253.3:n.456-71G>T
NM_005262.3:c.456-71G>T MANE Select NP_005253.3:n.456-71G>T