Canonical Allele Identifier: CA394304694

Gene: GFER

Linked Data

• dbSNP Id: rs1454651553
• gnomAD v2: 16-2036007-G-A
• gnomAD v4: 16-1986006-G-A
• MyVariant Identifiers: chr16:g.2036007G>A (hg19) ; chr16:g.1986006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1986006G>A , CM000678.2:g.1986006G>A	GRCh38
NC_000016.9:g.2036007G>A , CM000678.1:g.2036007G>A	GRCh37
NC_000016.8:g.1976008G>A	NCBI36
NG_016288.1:g.6858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.371G>A	ENSP00000455885.1:p.Trp124Ter
ENST00000248114.7:c.596G>A MANE Select	ENSP00000248114.6:p.Trp199Ter
ENST00000248114.6:c.596G>A	ENSP00000248114.6:p.Trp199Ter
ENST00000565658.1:n.753G>A
ENST00000567719.1:c.371G>A	ENSP00000455885.1:p.Trp124Ter
ENST00000569451.1:c.*69G>A	ENSP00000456432.1:n.*69G>A
NM_005262.2:c.596G>A	NP_005253.3:p.Trp199Ter
NM_005262.3:c.596G>A MANE Select	NP_005253.3:p.Trp199Ter