Canonical Allele Identifier: CA7826091
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs762842175
gnomAD v2: 16-2035976-T-C
gnomAD v4: 16-1985975-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985975T>C , CM000678.2:g.1985975T>C GRCh38
NC_000016.9:g.2035976T>C , CM000678.1:g.2035976T>C GRCh37
NC_000016.8:g.1975977T>C NCBI36
NG_016288.1:g.6827T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.340T>C ENSP00000455885.1:p.Ser114Pro
ENST00000248114.7:c.565T>C MANE Select ENSP00000248114.6:p.Ser189Pro
ENST00000248114.6:c.565T>C ENSP00000248114.6:p.Ser189Pro
ENST00000565658.1:n.722T>C
ENST00000567719.1:c.340T>C ENSP00000455885.1:p.Ser114Pro
ENST00000569451.1:c.*38T>C ENSP00000456432.1:n.*38T>C
NM_005262.2:c.565T>C NP_005253.3:p.Ser189Pro
NM_005262.3:c.565T>C MANE Select NP_005253.3:p.Ser189Pro