Canonical Allele Identifier: CA620704188

Gene: GFER

Linked Data

• dbSNP Id: rs1253954638
• gnomAD v2: 16-2035836-C-T
• gnomAD v4: 16-1985835-C-T
• MyVariant Identifiers: chr16:g.2035836C>T (hg19) ; chr16:g.1985835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985835C>T , CM000678.2:g.1985835C>T	GRCh38
NC_000016.9:g.2035836C>T , CM000678.1:g.2035836C>T	GRCh37
NC_000016.8:g.1975837C>T	NCBI36
NG_016288.1:g.6687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.231-31C>T	ENSP00000455885.1:n.231-31C>T
ENST00000248114.7:c.456-31C>T MANE Select	ENSP00000248114.6:n.456-31C>T
ENST00000248114.6:c.456-31C>T	ENSP00000248114.6:n.456-31C>T
ENST00000565658.1:n.613-31C>T
ENST00000567719.1:c.231-31C>T	ENSP00000455885.1:n.231-31C>T
ENST00000569451.1:c.259-31C>T	ENSP00000456432.1:n.259-31C>T
NM_005262.2:c.456-31C>T	NP_005253.3:n.456-31C>T
NM_005262.3:c.456-31C>T MANE Select	NP_005253.3:n.456-31C>T