Canonical Allele Identifier: CA492950331
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2036026C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1986025C>T , CM000678.2:g.1986025C>T GRCh38
NC_000016.9:g.2036026C>T , CM000678.1:g.2036026C>T GRCh37
NC_000016.8:g.1976027C>T NCBI36
NG_016288.1:g.6877C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.390C>T ENSP00000455885.1:p.Asp130=
ENST00000248114.7:c.615C>T MANE Select ENSP00000248114.6:p.Asp205=
ENST00000248114.6:c.615C>T ENSP00000248114.6:p.Asp205=
ENST00000565658.1:n.772C>T
ENST00000567719.1:c.390C>T ENSP00000455885.1:p.Asp130=
ENST00000569451.1:c.*88C>T ENSP00000456432.1:n.*88C>T
NM_005262.2:c.615C>T NP_005253.3:p.Asp205=
NM_005262.3:c.615C>T MANE Select NP_005253.3:p.Asp205=