Canonical Allele Identifier: CA2982697

Gene: FGF5

Linked Data

• dbSNP Id: rs377127455
• ExAC: 4:81207570 C / T
• gnomAD v2: 4-81207570-C-T
• gnomAD v3: 4-80286416-C-T
• gnomAD v4: 4-80286416-C-T
• MyVariant Identifiers: chr4:g.81207570C>T (hg19) ; chr4:g.80286416C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286416C>T , CM000666.2:g.80286416C>T	GRCh38
NC_000004.11:g.81207570C>T , CM000666.1:g.81207570C>T	GRCh37
NC_000004.10:g.81426594C>T	NCBI36
NG_029501.1:g.24829C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.551C>T MANE Select	ENSP00000311697.7:p.Thr184Ile
ENST00000312465.11:c.551C>T	ENSP00000311697.7:p.Thr184Ile
ENST00000456523.3:c.*75C>T	ENSP00000398353.3:n.*75C>T
ENST00000503413.1:n.500C>T
ENST00000507780.1:c.342+11404C>T	ENSP00000423903.1:n.342+11404C>T
NM_001291812.1:c.122C>T	NP_001278741.1:p.Thr41Ile
NM_004464.3:c.551C>T	NP_004455.2:p.Thr184Ile
NM_033143.2:c.*75C>T	NP_149134.1:n.*75C>T
NM_001291812.2:c.122C>T	NP_001278741.1:p.Thr41Ile
NM_004464.4:c.551C>T MANE Select	NP_004455.2:p.Thr184Ile