Canonical Allele Identifier: CA492950230
Gene: GFER HGNC NCBI

Linked Data

ClinVar Variation Id: 2977101
ClinVar RCV Id: RCV003831219
dbSNP Id: rs1405444823
gnomAD v2: 16-2035966-C-T
gnomAD v3: 16-1985965-C-T
gnomAD v4: 16-1985965-C-T
MyVariant Identifiers: chr16:g.2035966C>T (hg19) chr16:g.1985965C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985965C>T , CM000678.2:g.1985965C>T GRCh38
NC_000016.9:g.2035966C>T , CM000678.1:g.2035966C>T GRCh37
NC_000016.8:g.1975967C>T NCBI36
NG_016288.1:g.6817C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.330C>T ENSP00000455885.1:p.Asp110=
ENST00000248114.7:c.555C>T MANE Select ENSP00000248114.6:p.Asp185=
ENST00000248114.6:c.555C>T ENSP00000248114.6:p.Asp185=
ENST00000565658.1:n.712C>T
ENST00000567719.1:c.330C>T ENSP00000455885.1:p.Asp110=
ENST00000569451.1:c.*28C>T ENSP00000456432.1:n.*28C>T
NM_005262.2:c.555C>T NP_005253.3:p.Asp185=
NM_005262.3:c.555C>T MANE Select NP_005253.3:p.Asp185=
Search 100 bp 5'
Search 100 bp 3'