Canonical Allele Identifier: CA394304713

Gene: GFER

Linked Data

• MyVariant Identifiers: chr16:g.2036009A>T (hg19) ; chr16:g.1986008A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1986008A>T , CM000678.2:g.1986008A>T	GRCh38
NC_000016.9:g.2036009A>T , CM000678.1:g.2036009A>T	GRCh37
NC_000016.8:g.1976010A>T	NCBI36
NG_016288.1:g.6860A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567719.2:c.373A>T	ENSP00000455885.1:p.Lys125Ter
ENST00000248114.7:c.598A>T MANE Select	ENSP00000248114.6:p.Lys200Ter
ENST00000248114.6:c.598A>T	ENSP00000248114.6:p.Lys200Ter
ENST00000565658.1:n.755A>T
ENST00000567719.1:c.373A>T	ENSP00000455885.1:p.Lys125Ter
ENST00000569451.1:c.*71A>T	ENSP00000456432.1:n.*71A>T
NM_005262.2:c.598A>T	NP_005253.3:p.Lys200Ter
NM_005262.3:c.598A>T MANE Select	NP_005253.3:p.Lys200Ter