Canonical Allele Identifier: CA2651254928

Gene: FH

Linked Data

• dbSNP Id: rs2147919737
• gnomAD v4: 1-241508788-G-GGCTTTTATTAACATGATCGTTGGGATGCACAGGTATC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508788_241508789insGCTTTTATTAACATGATCGTTGGGATGCACAGGTATC , CM000663.2:g.241508788_241508789insGCTTTTATTAACATGATCGTTGGGATGCACAGGTATC	GRCh38
NC_000001.10:g.241672088_241672089insGCTTTTATTAACATGATCGTTGGGATGCACAGGTATC , CM000663.1:g.241672088_241672089insGCTTTTATTAACATGATCGTTGGGATGCACAGGTATC	GRCh37
NC_000001.9:g.239738711_239738712insGCTTTTATTAACATGATCGTTGGGATGCACAGGTATC	NCBI36
NG_012338.1:g.15966_15967insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC , LRG_504:g.15966_15967insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1059-4_1059-3insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC
ENST00000682162.1:c.585-4_585-3insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC	ENSP00000508203.1:n.585-4_585-3insGATACCTGTGCATCCCAACGATCATGT...
ENST00000682567.1:n.633-4_633-3insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC
ENST00000683521.1:c.556-4_556-3insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC	ENSP00000506864.1:n.556-4_556-3insGATACCTGTGCATCCCAACGATCATGT...
ENST00000684161.1:n.1767_1768insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC
ENST00000684483.1:c.556-29_556-28insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC	ENSP00000507894.1:n.556-29_556-28insGATACCTGTGCATCCCAACGATCAT...
ENST00000366560.4:c.556-4_556-3insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC MANE Select	ENSP00000355518.4:n.556-4_556-3insGATACCTGTGCATCCCAACGATCATGT...
ENST00000366560.3:c.556-4_556-3insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC	ENSP00000355518.3:n.556-4_556-3insGATACCTGTGCATCCCAACGATCATGT...
NM_000143.3:c.556-4_556-3insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC , LRG_504t1:c.556-4_556-3insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC	NP_000134.2:n.556-4_556-3insGATACCTGTGCATCCCAACGATCATGTTAATAA...
XM_011544132.1:c.328-4_328-3insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC	XP_011542434.1:n.328-4_328-3insGATACCTGTGCATCCCAACGATCATGTTAA...
XM_011544132.2:c.328-4_328-3insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC	XP_011542434.1:n.328-4_328-3insGATACCTGTGCATCCCAACGATCATGTTAA...
NM_000143.4:c.556-4_556-3insGATACCTGTGCATCCCAACGATCATGTTAATAAAAGC MANE Select	NP_000134.2:n.556-4_556-3insGATACCTGTGCATCCCAACGATCATGTTAATAA...