Canonical Allele Identifier: CA394304728
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2036011G>C (hg19) chr16:g.1986010G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1986010G>C , CM000678.2:g.1986010G>C GRCh38
NC_000016.9:g.2036011G>C , CM000678.1:g.2036011G>C GRCh37
NC_000016.8:g.1976012G>C NCBI36
NG_016288.1:g.6862G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000567719.2:c.375G>C ENSP00000455885.1:p.Lys125Asn
ENST00000248114.7:c.600G>C MANE Select ENSP00000248114.6:p.Lys200Asn
ENST00000248114.6:c.600G>C ENSP00000248114.6:p.Lys200Asn
ENST00000565658.1:n.757G>C
ENST00000567719.1:c.375G>C ENSP00000455885.1:p.Lys125Asn
ENST00000569451.1:c.*73G>C ENSP00000456432.1:n.*73G>C
NM_005262.2:c.600G>C NP_005253.3:p.Lys200Asn
NM_005262.3:c.600G>C MANE Select NP_005253.3:p.Lys200Asn
Search 100 bp 5'
Search 100 bp 3'