Canonical Allele Identifier: CA2982749

Gene: FGF5

Linked Data

• dbSNP Id: rs746528773
• ExAC: 4:81207768 C / G
• gnomAD v2: 4-81207768-C-G
• gnomAD v3: 4-80286614-C-G
• gnomAD v4: 4-80286614-C-G
• MyVariant Identifiers: chr4:g.81207768C>G (hg19) ; chr4:g.80286614C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286614C>G , CM000666.2:g.80286614C>G	GRCh38
NC_000004.11:g.81207768C>G , CM000666.1:g.81207768C>G	GRCh37
NC_000004.10:g.81426792C>G	NCBI36
NG_029501.1:g.25027C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.749C>G MANE Select	ENSP00000311697.7:p.Ser250Cys
ENST00000312465.11:c.749C>G	ENSP00000311697.7:p.Ser250Cys
ENST00000456523.3:c.*273C>G	ENSP00000398353.3:n.*273C>G
ENST00000503413.1:n.698C>G
ENST00000507780.1:c.342+11602C>G	ENSP00000423903.1:n.342+11602C>G
NM_001291812.1:c.320C>G	NP_001278741.1:p.Ser107Cys
NM_004464.3:c.749C>G	NP_004455.2:p.Ser250Cys
NM_033143.2:c.*273C>G	NP_149134.1:n.*273C>G
NM_001291812.2:c.320C>G	NP_001278741.1:p.Ser107Cys
NM_004464.4:c.749C>G MANE Select	NP_004455.2:p.Ser250Cys