Canonical Allele Identifier: CA1478663

Gene: FH

Linked Data

• ClinVar Variation Id: 1182490
• ClinVar RCV Id: RCV001540130 ; RCV002465883
• dbSNP Id: rs569920379
• ExAC: 1:241675239 C / CA
• gnomAD v2: 1-241675239-C-CA
• gnomAD v3: 1-241511939-C-CA
• gnomAD v4: 1-241511939-C-CA
• MyVariant Identifiers: chr1:g.241675239_241675240insA (hg19) ; chr1:g.241511939_241511940insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511945dup , CM000663.2:g.241511945dup	GRCh38
NC_000001.10:g.241675245dup , CM000663.1:g.241675245dup	GRCh37
NC_000001.9:g.239741868dup	NCBI36
NG_012338.1:g.12815dup , LRG_504:g.12815dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+27dup
ENST00000682162.1:c.584+27dup	ENSP00000508203.1:n.584+27dup
ENST00000682567.1:n.632+27dup
ENST00000683521.1:c.555+27dup	ENSP00000506864.1:n.555+27dup
ENST00000684483.1:c.555+27dup	ENSP00000507894.1:n.555+27dup
ENST00000366560.4:c.555+27dup MANE Select	ENSP00000355518.4:n.555+27dup
ENST00000366560.3:c.555+27dup	ENSP00000355518.3:n.555+27dup
ENST00000497042.1:n.278dup
NM_000143.3:c.555+27dup , LRG_504t1:c.555+27dup	NP_000134.2:n.555+27dup
XM_011544132.1:c.327+27dup	XP_011542434.1:n.327+27dup
XM_011544132.2:c.327+27dup	XP_011542434.1:n.327+27dup
NM_000143.4:c.555+27dup MANE Select	NP_000134.2:n.555+27dup