Canonical Allele Identifier: CA394304278

Gene: GFER

Linked Data

• ClinVar Variation Id: 2547241
• ClinVar RCV Id: RCV003273022
• MyVariant Identifiers: chr16:g.2035952C>G (hg19) ; chr16:g.1985951C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985951C>G , CM000678.2:g.1985951C>G	GRCh38
NC_000016.9:g.2035952C>G , CM000678.1:g.2035952C>G	GRCh37
NC_000016.8:g.1975953C>G	NCBI36
NG_016288.1:g.6803C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.316C>G	ENSP00000455885.1:p.Leu106Val
ENST00000248114.7:c.541C>G MANE Select	ENSP00000248114.6:p.Leu181Val
ENST00000248114.6:c.541C>G	ENSP00000248114.6:p.Leu181Val
ENST00000565658.1:n.698C>G
ENST00000567719.1:c.316C>G	ENSP00000455885.1:p.Leu106Val
ENST00000569451.1:c.*14C>G	ENSP00000456432.1:n.*14C>G
NM_005262.2:c.541C>G	NP_005253.3:p.Leu181Val
NM_005262.3:c.541C>G MANE Select	NP_005253.3:p.Leu181Val