Canonical Allele Identifier: CA492950191
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs1210441585
MyVariant Identifiers: chr16:g.2035942G>C (hg19) chr16:g.1985941G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985941G>C , CM000678.2:g.1985941G>C GRCh38
NC_000016.9:g.2035942G>C , CM000678.1:g.2035942G>C GRCh37
NC_000016.8:g.1975943G>C NCBI36
NG_016288.1:g.6793G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.306G>C ENSP00000455885.1:p.Val102=
ENST00000248114.7:c.531G>C MANE Select ENSP00000248114.6:p.Val177=
ENST00000248114.6:c.531G>C ENSP00000248114.6:p.Val177=
ENST00000565658.1:n.688G>C
ENST00000567719.1:c.306G>C ENSP00000455885.1:p.Val102=
ENST00000569451.1:c.*4G>C ENSP00000456432.1:n.*4G>C
NM_005262.2:c.531G>C NP_005253.3:p.Val177=
NM_005262.3:c.531G>C MANE Select NP_005253.3:p.Val177=
Search 100 bp 5'
Search 100 bp 3'