Canonical Allele Identifier: CA7826066
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs774862313
ExAC: 16:2035859 C / G
gnomAD v2: 16-2035859-C-G
gnomAD v3: 16-1985858-C-G
gnomAD v4: 16-1985858-C-G
MyVariant Identifiers: chr16:g.2035859C>G (hg19) chr16:g.1985858C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985858C>G , CM000678.2:g.1985858C>G GRCh38
NC_000016.9:g.2035859C>G , CM000678.1:g.2035859C>G GRCh37
NC_000016.8:g.1975860C>G NCBI36
NG_016288.1:g.6710C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.231-8C>G ENSP00000455885.1:n.231-8C>G
ENST00000248114.7:c.456-8C>G MANE Select ENSP00000248114.6:n.456-8C>G
ENST00000248114.6:c.456-8C>G ENSP00000248114.6:n.456-8C>G
ENST00000565658.1:n.613-8C>G
ENST00000567719.1:c.231-8C>G ENSP00000455885.1:n.231-8C>G
ENST00000569451.1:c.259-8C>G ENSP00000456432.1:n.259-8C>G
NM_005262.2:c.456-8C>G NP_005253.3:n.456-8C>G
NM_005262.3:c.456-8C>G MANE Select NP_005253.3:n.456-8C>G
Search 100 bp 5'
Search 100 bp 3'