Canonical Allele Identifier: CA7826079
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs780954807
ExAC: 16:2035935 A / G
gnomAD v2: 16-2035935-A-G
gnomAD v3: 16-1985934-A-G
gnomAD v4: 16-1985934-A-G
COSMIC: COSM702531
MyVariant Identifiers: chr16:g.2035935A>G (hg19) chr16:g.1985934A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985934A>G , CM000678.2:g.1985934A>G GRCh38
NC_000016.9:g.2035935A>G , CM000678.1:g.2035935A>G GRCh37
NC_000016.8:g.1975936A>G NCBI36
NG_016288.1:g.6786A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.299A>G ENSP00000455885.1:p.Asn100Ser
ENST00000248114.7:c.524A>G MANE Select ENSP00000248114.6:p.Asn175Ser
ENST00000248114.6:c.524A>G ENSP00000248114.6:p.Asn175Ser
ENST00000565658.1:n.681A>G
ENST00000567719.1:c.299A>G ENSP00000455885.1:p.Asn100Ser
ENST00000569451.1:c.327A>G ENSP00000456432.1:p.Gln109=
NM_005262.2:c.524A>G NP_005253.3:p.Asn175Ser
NM_005262.3:c.524A>G MANE Select NP_005253.3:p.Asn175Ser
Search 100 bp 5'
Search 100 bp 3'