Canonical Allele Identifier: CA394304109

Gene: GFER

Linked Data

• dbSNP Id: rs1380639933
• gnomAD v2: 16-2035932-A-G
• gnomAD v4: 16-1985931-A-G
• MyVariant Identifiers: chr16:g.2035932A>G (hg19) ; chr16:g.1985931A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985931A>G , CM000678.2:g.1985931A>G	GRCh38
NC_000016.9:g.2035932A>G , CM000678.1:g.2035932A>G	GRCh37
NC_000016.8:g.1975933A>G	NCBI36
NG_016288.1:g.6783A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.296A>G	ENSP00000455885.1:p.His99Arg
ENST00000248114.7:c.521A>G MANE Select	ENSP00000248114.6:p.His174Arg
ENST00000248114.6:c.521A>G	ENSP00000248114.6:p.His174Arg
ENST00000565658.1:n.678A>G
ENST00000567719.1:c.296A>G	ENSP00000455885.1:p.His99Arg
ENST00000569451.1:c.324A>G	ENSP00000456432.1:p.Ala108=
NM_005262.2:c.521A>G	NP_005253.3:p.His174Arg
NM_005262.3:c.521A>G MANE Select	NP_005253.3:p.His174Arg