Canonical Allele Identifier: CA7826061
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs746613040
ExAC: 16:2035837 T / C
gnomAD v2: 16-2035837-T-C
gnomAD v3: 16-1985836-T-C
gnomAD v4: 16-1985836-T-C
MyVariant Identifiers: chr16:g.2035837T>C (hg19) chr16:g.1985836T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985836T>C , CM000678.2:g.1985836T>C GRCh38
NC_000016.9:g.2035837T>C , CM000678.1:g.2035837T>C GRCh37
NC_000016.8:g.1975838T>C NCBI36
NG_016288.1:g.6688T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.231-30T>C ENSP00000455885.1:n.231-30T>C
ENST00000248114.7:c.456-30T>C MANE Select ENSP00000248114.6:n.456-30T>C
ENST00000248114.6:c.456-30T>C ENSP00000248114.6:n.456-30T>C
ENST00000565658.1:n.613-30T>C
ENST00000567719.1:c.231-30T>C ENSP00000455885.1:n.231-30T>C
ENST00000569451.1:c.259-30T>C ENSP00000456432.1:n.259-30T>C
NM_005262.2:c.456-30T>C NP_005253.3:n.456-30T>C
NM_005262.3:c.456-30T>C MANE Select NP_005253.3:n.456-30T>C
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