Canonical Allele Identifier: CA2201967669
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs2083563336
gnomAD v4: 16-1985850-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985850T>G , CM000678.2:g.1985850T>G GRCh38
NC_000016.9:g.2035851T>G , CM000678.1:g.2035851T>G GRCh37
NC_000016.8:g.1975852T>G NCBI36
NG_016288.1:g.6702T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.231-16T>G ENSP00000455885.1:n.231-16T>G
ENST00000248114.7:c.456-16T>G MANE Select ENSP00000248114.6:n.456-16T>G
ENST00000248114.6:c.456-16T>G ENSP00000248114.6:n.456-16T>G
ENST00000565658.1:n.613-16T>G
ENST00000567719.1:c.231-16T>G ENSP00000455885.1:n.231-16T>G
ENST00000569451.1:c.259-16T>G ENSP00000456432.1:n.259-16T>G
NM_005262.2:c.456-16T>G NP_005253.3:n.456-16T>G
NM_005262.3:c.456-16T>G MANE Select NP_005253.3:n.456-16T>G
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