Canonical Allele Identifier: CA2201967612
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs578242774
gnomAD v4: 16-1985796-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985796C>A , CM000678.2:g.1985796C>A GRCh38
NC_000016.9:g.2035797C>A , CM000678.1:g.2035797C>A GRCh37
NC_000016.8:g.1975798C>A NCBI36
NG_016288.1:g.6648C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.231-70C>A ENSP00000455885.1:n.231-70C>A
ENST00000248114.7:c.456-70C>A MANE Select ENSP00000248114.6:n.456-70C>A
ENST00000248114.6:c.456-70C>A ENSP00000248114.6:n.456-70C>A
ENST00000565658.1:n.613-70C>A
ENST00000567719.1:c.231-70C>A ENSP00000455885.1:n.231-70C>A
ENST00000569451.1:c.259-70C>A ENSP00000456432.1:n.259-70C>A
NM_005262.2:c.456-70C>A NP_005253.3:n.456-70C>A
NM_005262.3:c.456-70C>A MANE Select NP_005253.3:n.456-70C>A
Search 100 bp 5'
Search 100 bp 3'