Canonical Allele Identifier: CA394303997
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1985914-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985914G>T , CM000678.2:g.1985914G>T GRCh38
NC_000016.9:g.2035915G>T , CM000678.1:g.2035915G>T GRCh37
NC_000016.8:g.1975916G>T NCBI36
NG_016288.1:g.6766G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.279G>T ENSP00000455885.1:p.Gln93His
ENST00000248114.7:c.504G>T MANE Select ENSP00000248114.6:p.Gln168His
ENST00000248114.6:c.504G>T ENSP00000248114.6:p.Gln168His
ENST00000565658.1:n.661G>T
ENST00000567719.1:c.279G>T ENSP00000455885.1:p.Gln93His
ENST00000569451.1:c.307G>T ENSP00000456432.1:p.Val103Leu
NM_005262.2:c.504G>T NP_005253.3:p.Gln168His
NM_005262.3:c.504G>T MANE Select NP_005253.3:p.Gln168His