Canonical Allele Identifier: CA2671179895
Gene: FGF5 HGNC NCBI

Linked Data

gnomAD v4: 4-80286726-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286726G>T , CM000666.2:g.80286726G>T GRCh38
NC_000004.11:g.81207880G>T , CM000666.1:g.81207880G>T GRCh37
NC_000004.10:g.81426904G>T NCBI36
NG_029501.1:g.25139G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.*54G>T MANE Select ENSP00000311697.7:n.*54G>T
ENST00000312465.11:c.*54G>T ENSP00000311697.7:n.*54G>T
ENST00000456523.3:c.*385G>T ENSP00000398353.3:n.*385G>T
ENST00000503413.1:n.810G>T
ENST00000507780.1:c.342+11714G>T ENSP00000423903.1:n.342+11714G>T
NM_001291812.1:c.*54G>T NP_001278741.1:n.*54G>T
NM_004464.3:c.*54G>T NP_004455.2:n.*54G>T
NM_033143.2:c.*385G>T NP_149134.1:n.*385G>T
NM_001291812.2:c.*54G>T NP_001278741.1:n.*54G>T
NM_004464.4:c.*54G>T MANE Select NP_004455.2:n.*54G>T