Canonical Allele Identifier: CA394303662

Gene: GFER

Linked Data

• dbSNP Id: rs2083563550
• gnomAD v3: 16-1985870-T-C
• gnomAD v4: 16-1985870-T-C
• MyVariant Identifiers: chr16:g.2035871T>C (hg19) ; chr16:g.1985870T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985870T>C , CM000678.2:g.1985870T>C	GRCh38
NC_000016.9:g.2035871T>C , CM000678.1:g.2035871T>C	GRCh37
NC_000016.8:g.1975872T>C	NCBI36
NG_016288.1:g.6722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.235T>C	ENSP00000455885.1:p.Cys79Arg
ENST00000248114.7:c.460T>C MANE Select	ENSP00000248114.6:p.Cys154Arg
ENST00000248114.6:c.460T>C	ENSP00000248114.6:p.Cys154Arg
ENST00000565658.1:n.617T>C
ENST00000567719.1:c.235T>C	ENSP00000455885.1:p.Cys79Arg
ENST00000569451.1:c.263T>C	ENSP00000456432.1:p.Val88Ala
NM_005262.2:c.460T>C	NP_005253.3:p.Cys154Arg
NM_005262.3:c.460T>C MANE Select	NP_005253.3:p.Cys154Arg