Canonical Allele Identifier: CA394304080

Gene: GFER

Linked Data

• dbSNP Id: rs2083563958
• gnomAD v4: 16-1985929-G-C
• MyVariant Identifiers: chr16:g.2035930G>C (hg19) ; chr16:g.1985929G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985929G>C , CM000678.2:g.1985929G>C	GRCh38
NC_000016.9:g.2035930G>C , CM000678.1:g.2035930G>C	GRCh37
NC_000016.8:g.1975931G>C	NCBI36
NG_016288.1:g.6781G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.294G>C	ENSP00000455885.1:p.Leu98=
ENST00000248114.7:c.519G>C MANE Select	ENSP00000248114.6:p.Leu173=
ENST00000248114.6:c.519G>C	ENSP00000248114.6:p.Leu173=
ENST00000565658.1:n.676G>C
ENST00000567719.1:c.294G>C	ENSP00000455885.1:p.Leu98=
ENST00000569451.1:c.322G>C	ENSP00000456432.1:p.Ala108Pro
NM_005262.2:c.519G>C	NP_005253.3:p.Leu173=
NM_005262.3:c.519G>C MANE Select	NP_005253.3:p.Leu173=