Canonical Allele Identifier: CA7826074
Gene: GFER HGNC NCBI

Linked Data

ClinVar Variation Id: 559180
ClinVar RCV Id: RCV000676339
dbSNP Id: rs36041021
ExAC: 16:2035907 T / C
gnomAD v2: 16-2035907-T-C
gnomAD v3: 16-1985906-T-C
gnomAD v4: 16-1985906-T-C
MyVariant Identifiers: chr16:g.2035907T>C (hg19) chr16:g.1985906T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985906T>C , CM000678.2:g.1985906T>C GRCh38
NC_000016.9:g.2035907T>C , CM000678.1:g.2035907T>C GRCh37
NC_000016.8:g.1975908T>C NCBI36
NG_016288.1:g.6758T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.271T>C ENSP00000455885.1:p.Phe91Leu
ENST00000248114.7:c.496T>C MANE Select ENSP00000248114.6:p.Phe166Leu
ENST00000248114.6:c.496T>C ENSP00000248114.6:p.Phe166Leu
ENST00000565658.1:n.653T>C
ENST00000567719.1:c.271T>C ENSP00000455885.1:p.Phe91Leu
ENST00000569451.1:c.299T>C ENSP00000456432.1:p.Leu100Pro
NM_005262.2:c.496T>C NP_005253.3:p.Phe166Leu
NM_005262.3:c.496T>C MANE Select NP_005253.3:p.Phe166Leu
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