Canonical Allele Identifier: CA440227712

Gene: FGF5

Linked Data

• dbSNP Id: rs1287374634
• gnomAD v2: 4-81207526-T-C
• gnomAD v3: 4-80286372-T-C
• gnomAD v4: 4-80286372-T-C
• MyVariant Identifiers: chr4:g.81207526T>C (hg19) ; chr4:g.80286372T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286372T>C , CM000666.2:g.80286372T>C	GRCh38
NC_000004.11:g.81207526T>C , CM000666.1:g.81207526T>C	GRCh37
NC_000004.10:g.81426550T>C	NCBI36
NG_029501.1:g.24785T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.507T>C MANE Select	ENSP00000311697.7:p.Asn169=
ENST00000312465.11:c.507T>C	ENSP00000311697.7:p.Asn169=
ENST00000456523.3:c.*31T>C	ENSP00000398353.3:n.*31T>C
ENST00000503413.1:n.456T>C
ENST00000507780.1:c.342+11360T>C	ENSP00000423903.1:n.342+11360T>C
NM_001291812.1:c.78T>C	NP_001278741.1:p.Asn26=
NM_004464.3:c.507T>C	NP_004455.2:p.Asn169=
NM_033143.2:c.*31T>C	NP_149134.1:n.*31T>C
NM_001291812.2:c.78T>C	NP_001278741.1:p.Asn26=
NM_004464.4:c.507T>C MANE Select	NP_004455.2:p.Asn169=