Canonical Allele Identifier: CA718839766

Gene: GFER

Linked Data

• dbSNP Id: rs1156289466
• gnomAD v3: 16-1985810-G-A
• gnomAD v4: 16-1985810-G-A
• MyVariant Identifiers: chr16:g.2035811G>A (hg19) ; chr16:g.1985810G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985810G>A , CM000678.2:g.1985810G>A	GRCh38
NC_000016.9:g.2035811G>A , CM000678.1:g.2035811G>A	GRCh37
NC_000016.8:g.1975812G>A	NCBI36
NG_016288.1:g.6662G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000567719.2:c.231-56G>A	ENSP00000455885.1:n.231-56G>A
ENST00000248114.7:c.456-56G>A MANE Select	ENSP00000248114.6:n.456-56G>A
ENST00000248114.6:c.456-56G>A	ENSP00000248114.6:n.456-56G>A
ENST00000565658.1:n.613-56G>A
ENST00000567719.1:c.231-56G>A	ENSP00000455885.1:n.231-56G>A
ENST00000569451.1:c.259-56G>A	ENSP00000456432.1:n.259-56G>A
NM_005262.2:c.456-56G>A	NP_005253.3:n.456-56G>A
NM_005262.3:c.456-56G>A MANE Select	NP_005253.3:n.456-56G>A