Canonical Allele Identifier: CA394304034
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs1172541426
gnomAD v2: 16-2035923-G-A
gnomAD v3: 16-1985922-G-A
gnomAD v4: 16-1985922-G-A
MyVariant Identifiers: chr16:g.2035923G>A (hg19) chr16:g.1985922G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985922G>A , CM000678.2:g.1985922G>A GRCh38
NC_000016.9:g.2035923G>A , CM000678.1:g.2035923G>A GRCh37
NC_000016.8:g.1975924G>A NCBI36
NG_016288.1:g.6774G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.287G>A ENSP00000455885.1:p.Cys96Tyr
ENST00000248114.7:c.512G>A MANE Select ENSP00000248114.6:p.Cys171Tyr
ENST00000248114.6:c.512G>A ENSP00000248114.6:p.Cys171Tyr
ENST00000565658.1:n.669G>A
ENST00000567719.1:c.287G>A ENSP00000455885.1:p.Cys96Tyr
ENST00000569451.1:c.315G>A ENSP00000456432.1:p.Val105=
NM_005262.2:c.512G>A NP_005253.3:p.Cys171Tyr
NM_005262.3:c.512G>A MANE Select NP_005253.3:p.Cys171Tyr
Search 100 bp 5'
Search 100 bp 3'