Canonical Allele Identifier: CA7826106
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs142042300
ExAC: 16:2036012 G / C
gnomAD v2: 16-2036012-G-C
gnomAD v4: 16-1986011-G-C
MyVariant Identifiers: chr16:g.2036012G>C (hg19) chr16:g.1986011G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1986011G>C , CM000678.2:g.1986011G>C GRCh38
NC_000016.9:g.2036012G>C , CM000678.1:g.2036012G>C GRCh37
NC_000016.8:g.1976013G>C NCBI36
NG_016288.1:g.6863G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.376G>C ENSP00000455885.1:p.Asp126His
ENST00000248114.7:c.601G>C MANE Select ENSP00000248114.6:p.Asp201His
ENST00000248114.6:c.601G>C ENSP00000248114.6:p.Asp201His
ENST00000565658.1:n.758G>C
ENST00000567719.1:c.376G>C ENSP00000455885.1:p.Asp126His
ENST00000569451.1:c.*74G>C ENSP00000456432.1:n.*74G>C
NM_005262.2:c.601G>C NP_005253.3:p.Asp201His
NM_005262.3:c.601G>C MANE Select NP_005253.3:p.Asp201His
Search 100 bp 5'
Search 100 bp 3'