Canonical Allele Identifier: CA394303889

Gene: GFER

Linked Data

• dbSNP Id: rs755147804
• gnomAD v2: 16-2035899-G-T
• gnomAD v4: 16-1985898-G-T
• MyVariant Identifiers: chr16:g.2035899G>T (hg19) ; chr16:g.1985898G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985898G>T , CM000678.2:g.1985898G>T	GRCh38
NC_000016.9:g.2035899G>T , CM000678.1:g.2035899G>T	GRCh37
NC_000016.8:g.1975900G>T	NCBI36
NG_016288.1:g.6750G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.263G>T	ENSP00000455885.1:p.Arg88Leu
ENST00000248114.7:c.488G>T MANE Select	ENSP00000248114.6:p.Arg163Leu
ENST00000248114.6:c.488G>T	ENSP00000248114.6:p.Arg163Leu
ENST00000565658.1:n.645G>T
ENST00000567719.1:c.263G>T	ENSP00000455885.1:p.Arg88Leu
ENST00000569451.1:c.291G>T	ENSP00000456432.1:p.Pro97=
NM_005262.2:c.488G>T	NP_005253.3:p.Arg163Leu
NM_005262.3:c.488G>T MANE Select	NP_005253.3:p.Arg163Leu