Canonical Allele Identifier: CA7826116

Gene: GFER

Linked Data

• dbSNP Id: rs754482090
• ExAC: 16:2036036 G / C
• gnomAD v2: 16-2036036-G-C
• gnomAD v3: 16-1986035-G-C
• gnomAD v4: 16-1986035-G-C
• MyVariant Identifiers: chr16:g.2036036G>C (hg19) ; chr16:g.1986035G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1986035G>C , CM000678.2:g.1986035G>C	GRCh38
NC_000016.9:g.2036036G>C , CM000678.1:g.2036036G>C	GRCh37
NC_000016.8:g.1976037G>C	NCBI36
NG_016288.1:g.6887G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.*7G>C	ENSP00000455885.1:n.*7G>C
ENST00000248114.7:c.*7G>C MANE Select	ENSP00000248114.6:n.*7G>C
ENST00000248114.6:c.*7G>C	ENSP00000248114.6:n.*7G>C
ENST00000565658.1:n.782G>C
ENST00000567719.1:c.*7G>C	ENSP00000455885.1:n.*7G>C
ENST00000569451.1:c.*98G>C	ENSP00000456432.1:n.*98G>C
NM_005262.2:c.*7G>C	NP_005253.3:n.*7G>C
NM_005262.3:c.*7G>C MANE Select	NP_005253.3:n.*7G>C