Canonical Allele Identifier: CA276773465
Gene: GFER HGNC NCBI

Linked Data

ClinVar Variation Id: 514442
ClinVar RCV Id: RCV000603882 RCV000924966
dbSNP Id: rs1016101367
gnomAD v2: 16-2035858-C-T
gnomAD v4: 16-1985857-C-T
MyVariant Identifiers: chr16:g.2035858C>T (hg19) chr16:g.1985857C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985857C>T , CM000678.2:g.1985857C>T GRCh38
NC_000016.9:g.2035858C>T , CM000678.1:g.2035858C>T GRCh37
NC_000016.8:g.1975859C>T NCBI36
NG_016288.1:g.6709C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.231-9C>T ENSP00000455885.1:n.231-9C>T
ENST00000248114.7:c.456-9C>T MANE Select ENSP00000248114.6:n.456-9C>T
ENST00000248114.6:c.456-9C>T ENSP00000248114.6:n.456-9C>T
ENST00000565658.1:n.613-9C>T
ENST00000567719.1:c.231-9C>T ENSP00000455885.1:n.231-9C>T
ENST00000569451.1:c.259-9C>T ENSP00000456432.1:n.259-9C>T
NM_005262.2:c.456-9C>T NP_005253.3:n.456-9C>T
NM_005262.3:c.456-9C>T MANE Select NP_005253.3:n.456-9C>T
Search 100 bp 5'
Search 100 bp 3'