Canonical Allele Identifier: CA798906086
Gene: FGF5 HGNC NCBI

Linked Data

dbSNP Id: rs1291260678
gnomAD v4: 4-80286726-G-A
MyVariant Identifiers: chr4:g.81207880G>A (hg19) chr4:g.80286726G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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