Canonical Allele Identifier: CA7826081
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs201959073
ExAC: 16:2035941 T / G
gnomAD v2: 16-2035941-T-G
gnomAD v3: 16-1985940-T-G
gnomAD v4: 16-1985940-T-G
MyVariant Identifiers: chr16:g.2035941T>G (hg19) chr16:g.1985940T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985940T>G , CM000678.2:g.1985940T>G GRCh38
NC_000016.9:g.2035941T>G , CM000678.1:g.2035941T>G GRCh37
NC_000016.8:g.1975942T>G NCBI36
NG_016288.1:g.6792T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.305T>G ENSP00000455885.1:p.Val102Gly
ENST00000248114.7:c.530T>G MANE Select ENSP00000248114.6:p.Val177Gly
ENST00000248114.6:c.530T>G ENSP00000248114.6:p.Val177Gly
ENST00000565658.1:n.687T>G
ENST00000567719.1:c.305T>G ENSP00000455885.1:p.Val102Gly
ENST00000569451.1:c.*3T>G ENSP00000456432.1:n.*3T>G
NM_005262.2:c.530T>G NP_005253.3:p.Val177Gly
NM_005262.3:c.530T>G MANE Select NP_005253.3:p.Val177Gly
Search 100 bp 5'
Search 100 bp 3'