Canonical Allele Identifier: CA2575875463
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1985813-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985813G>T , CM000678.2:g.1985813G>T GRCh38
NC_000016.9:g.2035814G>T , CM000678.1:g.2035814G>T GRCh37
NC_000016.8:g.1975815G>T NCBI36
NG_016288.1:g.6665G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.231-53G>T ENSP00000455885.1:n.231-53G>T
ENST00000248114.7:c.456-53G>T MANE Select ENSP00000248114.6:n.456-53G>T
ENST00000248114.6:c.456-53G>T ENSP00000248114.6:n.456-53G>T
ENST00000565658.1:n.613-53G>T
ENST00000567719.1:c.231-53G>T ENSP00000455885.1:n.231-53G>T
ENST00000569451.1:c.259-53G>T ENSP00000456432.1:n.259-53G>T
NM_005262.2:c.456-53G>T NP_005253.3:n.456-53G>T
NM_005262.3:c.456-53G>T MANE Select NP_005253.3:n.456-53G>T
Search 100 bp 5'
Search 100 bp 3'