Canonical Allele Identifier: CA2631092378

Gene: GFER

Linked Data

• gnomAD v4: 16-1985814-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985814G>T , CM000678.2:g.1985814G>T	GRCh38
NC_000016.9:g.2035815G>T , CM000678.1:g.2035815G>T	GRCh37
NC_000016.8:g.1975816G>T	NCBI36
NG_016288.1:g.6666G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567719.2:c.231-52G>T	ENSP00000455885.1:n.231-52G>T
ENST00000248114.7:c.456-52G>T MANE Select	ENSP00000248114.6:n.456-52G>T
ENST00000248114.6:c.456-52G>T	ENSP00000248114.6:n.456-52G>T
ENST00000565658.1:n.613-52G>T
ENST00000567719.1:c.231-52G>T	ENSP00000455885.1:n.231-52G>T
ENST00000569451.1:c.259-52G>T	ENSP00000456432.1:n.259-52G>T
NM_005262.2:c.456-52G>T	NP_005253.3:n.456-52G>T
NM_005262.3:c.456-52G>T MANE Select	NP_005253.3:n.456-52G>T