Canonical Allele Identifier: CA276773618

Gene: GFER

Linked Data

• dbSNP Id: rs920759135
• gnomAD v2: 16-2036046-G-T
• gnomAD v4: 16-1986045-G-T
• MyVariant Identifiers: chr16:g.2036046G>T (hg19) ; chr16:g.1986045G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1986045G>T , CM000678.2:g.1986045G>T	GRCh38
NC_000016.9:g.2036046G>T , CM000678.1:g.2036046G>T	GRCh37
NC_000016.8:g.1976047G>T	NCBI36
NG_016288.1:g.6897G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.*17G>T	ENSP00000455885.1:n.*17G>T
ENST00000248114.7:c.*17G>T MANE Select	ENSP00000248114.6:n.*17G>T
ENST00000248114.6:c.*17G>T	ENSP00000248114.6:n.*17G>T
ENST00000565658.1:n.792G>T
ENST00000567719.1:c.*17G>T	ENSP00000455885.1:n.*17G>T
ENST00000569451.1:c.*108G>T	ENSP00000456432.1:n.*108G>T
NM_005262.2:c.*17G>T	NP_005253.3:n.*17G>T
NM_005262.3:c.*17G>T MANE Select	NP_005253.3:n.*17G>T