Canonical Allele Identifier: CA7826069
Gene: GFER HGNC NCBI

Linked Data

ClinVar Variation Id: 559179
ClinVar RCV Id: RCV000676338
dbSNP Id: rs1046502
ExAC: 16:2035868 C / T
gnomAD v2: 16-2035868-C-T
gnomAD v3: 16-1985867-C-T
gnomAD v4: 16-1985867-C-T
MyVariant Identifiers: chr16:g.2035868C>T (hg19) chr16:g.1985867C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985867C>T , CM000678.2:g.1985867C>T GRCh38
NC_000016.9:g.2035868C>T , CM000678.1:g.2035868C>T GRCh37
NC_000016.8:g.1975869C>T NCBI36
NG_016288.1:g.6719C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.232C>T ENSP00000455885.1:p.Leu78=
ENST00000248114.7:c.457C>T MANE Select ENSP00000248114.6:p.Leu153=
ENST00000248114.6:c.457C>T ENSP00000248114.6:p.Leu153=
ENST00000565658.1:n.614C>T
ENST00000567719.1:c.232C>T ENSP00000455885.1:p.Leu78=
ENST00000569451.1:c.260C>T ENSP00000456432.1:p.Ala87Val
NM_005262.2:c.457C>T NP_005253.3:p.Leu153=
NM_005262.3:c.457C>T MANE Select NP_005253.3:p.Leu153=
Search 100 bp 5'
Search 100 bp 3'