Canonical Allele Identifier: CA323190

Gene: GFER

Linked Data

• ClinVar Variation Id: 214473
• ClinVar RCV Id: RCV000198653
• dbSNP Id: rs183638147
• ExAC: 16:2035961 C / A
• gnomAD v2: 16-2035961-C-A
• gnomAD v3: 16-1985960-C-A
• gnomAD v4: 16-1985960-C-A
• MyVariant Identifiers: chr16:g.2035961C>A (hg19) ; chr16:g.1985960C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985960C>A , CM000678.2:g.1985960C>A	GRCh38
NC_000016.9:g.2035961C>A , CM000678.1:g.2035961C>A	GRCh37
NC_000016.8:g.1975962C>A	NCBI36
NG_016288.1:g.6812C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.325C>A	ENSP00000455885.1:p.Pro109Thr
ENST00000248114.7:c.550C>A MANE Select	ENSP00000248114.6:p.Pro184Thr
ENST00000248114.6:c.550C>A	ENSP00000248114.6:p.Pro184Thr
ENST00000565658.1:n.707C>A
ENST00000567719.1:c.325C>A	ENSP00000455885.1:p.Pro109Thr
ENST00000569451.1:c.*23C>A	ENSP00000456432.1:n.*23C>A
NM_005262.2:c.550C>A	NP_005253.3:p.Pro184Thr
NM_005262.3:c.550C>A MANE Select	NP_005253.3:p.Pro184Thr