Canonical Allele Identifier: CA440227725

Gene: FGF5

Linked Data

• dbSNP Id: rs1355221380
• gnomAD v3: 4-80286381-T-C
• gnomAD v4: 4-80286381-T-C
• MyVariant Identifiers: chr4:g.81207535T>C (hg19) ; chr4:g.80286381T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286381T>C , CM000666.2:g.80286381T>C	GRCh38
NC_000004.11:g.81207535T>C , CM000666.1:g.81207535T>C	GRCh37
NC_000004.10:g.81426559T>C	NCBI36
NG_029501.1:g.24794T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.516T>C MANE Select	ENSP00000311697.7:p.Asn172=
ENST00000312465.11:c.516T>C	ENSP00000311697.7:p.Asn172=
ENST00000456523.3:c.*40T>C	ENSP00000398353.3:n.*40T>C
ENST00000503413.1:n.465T>C
ENST00000507780.1:c.342+11369T>C	ENSP00000423903.1:n.342+11369T>C
NM_001291812.1:c.87T>C	NP_001278741.1:p.Asn29=
NM_004464.3:c.516T>C	NP_004455.2:p.Asn172=
NM_033143.2:c.*40T>C	NP_149134.1:n.*40T>C
NM_001291812.2:c.87T>C	NP_001278741.1:p.Asn29=
NM_004464.4:c.516T>C MANE Select	NP_004455.2:p.Asn172=