Canonical Allele Identifier: CA440227704

Gene: FGF5

Linked Data

• dbSNP Id: rs1381410112
• MyVariant Identifiers: chr4:g.81207784T>C (hg19) ; chr4:g.80286630T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286630T>C , CM000666.2:g.80286630T>C	GRCh38
NC_000004.11:g.81207784T>C , CM000666.1:g.81207784T>C	GRCh37
NC_000004.10:g.81426808T>C	NCBI36
NG_029501.1:g.25043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.765T>C MANE Select	ENSP00000311697.7:p.Asn255=
ENST00000312465.11:c.765T>C	ENSP00000311697.7:p.Asn255=
ENST00000456523.3:c.*289T>C	ENSP00000398353.3:n.*289T>C
ENST00000503413.1:n.714T>C
ENST00000507780.1:c.342+11618T>C	ENSP00000423903.1:n.342+11618T>C
NM_001291812.1:c.336T>C	NP_001278741.1:p.Asn112=
NM_004464.3:c.765T>C	NP_004455.2:p.Asn255=
NM_033143.2:c.*289T>C	NP_149134.1:n.*289T>C
NM_001291812.2:c.336T>C	NP_001278741.1:p.Asn112=
NM_004464.4:c.765T>C MANE Select	NP_004455.2:p.Asn255=