Canonical Allele Identifier: CA7826121
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs746282425
ExAC: 16:2036067 G / C
gnomAD v2: 16-2036067-G-C
gnomAD v4: 16-1986066-G-C
MyVariant Identifiers: chr16:g.2036067G>C (hg19) chr16:g.1986066G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1986066G>C , CM000678.2:g.1986066G>C GRCh38
NC_000016.9:g.2036067G>C , CM000678.1:g.2036067G>C GRCh37
NC_000016.8:g.1976068G>C NCBI36
NG_016288.1:g.6918G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.*38G>C ENSP00000455885.1:n.*38G>C
ENST00000248114.7:c.*38G>C MANE Select ENSP00000248114.6:n.*38G>C
ENST00000248114.6:c.*38G>C ENSP00000248114.6:n.*38G>C
ENST00000565658.1:n.813G>C
ENST00000567719.1:c.*38G>C ENSP00000455885.1:n.*38G>C
ENST00000569451.1:c.*129G>C ENSP00000456432.1:n.*129G>C
NM_005262.2:c.*38G>C NP_005253.3:n.*38G>C
NM_005262.3:c.*38G>C MANE Select NP_005253.3:n.*38G>C
Search 100 bp 5'
Search 100 bp 3'