Canonical Allele Identifier: CA492950260

Gene: GFER

Linked Data

• dbSNP Id: rs2083564769
• gnomAD v3: 16-1985977-A-C
• gnomAD v4: 16-1985977-A-C
• MyVariant Identifiers: chr16:g.2035978A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985977A>C , CM000678.2:g.1985977A>C	GRCh38
NC_000016.9:g.2035978A>C , CM000678.1:g.2035978A>C	GRCh37
NC_000016.8:g.1975979A>C	NCBI36
NG_016288.1:g.6829A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.342A>C	ENSP00000455885.1:p.Ser114=
ENST00000248114.7:c.567A>C MANE Select	ENSP00000248114.6:p.Ser189=
ENST00000248114.6:c.567A>C	ENSP00000248114.6:p.Ser189=
ENST00000565658.1:n.724A>C
ENST00000567719.1:c.342A>C	ENSP00000455885.1:p.Ser114=
ENST00000569451.1:c.*40A>C	ENSP00000456432.1:n.*40A>C
NM_005262.2:c.567A>C	NP_005253.3:p.Ser189=
NM_005262.3:c.567A>C MANE Select	NP_005253.3:p.Ser189=