Canonical Allele Identifier: CA2982764

Gene: FGF5

Linked Data

• dbSNP Id: rs752500500
• ExAC: 4:81207824 T / C
• gnomAD v2: 4-81207824-T-C
• gnomAD v4: 4-80286670-T-C
• MyVariant Identifiers: chr4:g.81207824T>C (hg19) ; chr4:g.80286670T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286670T>C , CM000666.2:g.80286670T>C	GRCh38
NC_000004.11:g.81207824T>C , CM000666.1:g.81207824T>C	GRCh37
NC_000004.10:g.81426848T>C	NCBI36
NG_029501.1:g.25083T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.805T>C MANE Select	ENSP00000311697.7:p.Ter269Gln
ENST00000312465.11:c.805T>C	ENSP00000311697.7:p.Ter269Gln
ENST00000456523.3:c.*329T>C	ENSP00000398353.3:n.*329T>C
ENST00000503413.1:n.754T>C
ENST00000507780.1:c.342+11658T>C	ENSP00000423903.1:n.342+11658T>C
NM_001291812.1:c.376T>C	NP_001278741.1:p.Ter126Gln
NM_004464.3:c.805T>C	NP_004455.2:p.Ter269Gln
NM_033143.2:c.*329T>C	NP_149134.1:n.*329T>C
NM_001291812.2:c.376T>C	NP_001278741.1:p.Ter126Gln
NM_004464.4:c.805T>C MANE Select	NP_004455.2:p.Ter269Gln