Canonical Allele Identifier: CA492950214

Gene: GFER

Linked Data

• dbSNP Id: rs1196125347
• gnomAD v2: 16-2035957-C-A
• MyVariant Identifiers: chr16:g.2035957C>A (hg19) ; chr16:g.1985956C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985956C>A , CM000678.2:g.1985956C>A	GRCh38
NC_000016.9:g.2035957C>A , CM000678.1:g.2035957C>A	GRCh37
NC_000016.8:g.1975958C>A	NCBI36
NG_016288.1:g.6808C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.321C>A	ENSP00000455885.1:p.Gly107=
ENST00000248114.7:c.546C>A MANE Select	ENSP00000248114.6:p.Gly182=
ENST00000248114.6:c.546C>A	ENSP00000248114.6:p.Gly182=
ENST00000565658.1:n.703C>A
ENST00000567719.1:c.321C>A	ENSP00000455885.1:p.Gly107=
ENST00000569451.1:c.*19C>A	ENSP00000456432.1:n.*19C>A
NM_005262.2:c.546C>A	NP_005253.3:p.Gly182=
NM_005262.3:c.546C>A MANE Select	NP_005253.3:p.Gly182=