Canonical Allele Identifier: CA2631092360

Gene: GFER

Linked Data

• gnomAD v4: 16-1985800-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985800C>T , CM000678.2:g.1985800C>T	GRCh38
NC_000016.9:g.2035801C>T , CM000678.1:g.2035801C>T	GRCh37
NC_000016.8:g.1975802C>T	NCBI36
NG_016288.1:g.6652C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.231-66C>T	ENSP00000455885.1:n.231-66C>T
ENST00000248114.7:c.456-66C>T MANE Select	ENSP00000248114.6:n.456-66C>T
ENST00000248114.6:c.456-66C>T	ENSP00000248114.6:n.456-66C>T
ENST00000565658.1:n.613-66C>T
ENST00000567719.1:c.231-66C>T	ENSP00000455885.1:n.231-66C>T
ENST00000569451.1:c.259-66C>T	ENSP00000456432.1:n.259-66C>T
NM_005262.2:c.456-66C>T	NP_005253.3:n.456-66C>T
NM_005262.3:c.456-66C>T MANE Select	NP_005253.3:n.456-66C>T