Canonical Allele Identifier: CA394303715
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2035879C>A (hg19) chr16:g.1985878C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985878C>A , CM000678.2:g.1985878C>A GRCh38
NC_000016.9:g.2035879C>A , CM000678.1:g.2035879C>A GRCh37
NC_000016.8:g.1975880C>A NCBI36
NG_016288.1:g.6730C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.243C>A ENSP00000455885.1:p.Asn81Lys
ENST00000248114.7:c.468C>A MANE Select ENSP00000248114.6:p.Asn156Lys
ENST00000248114.6:c.468C>A ENSP00000248114.6:p.Asn156Lys
ENST00000565658.1:n.625C>A
ENST00000567719.1:c.243C>A ENSP00000455885.1:p.Asn81Lys
ENST00000569451.1:c.271C>A ENSP00000456432.1:p.Pro91Thr
NM_005262.2:c.468C>A NP_005253.3:p.Asn156Lys
NM_005262.3:c.468C>A MANE Select NP_005253.3:p.Asn156Lys
Search 100 bp 5'
Search 100 bp 3'