Canonical Allele Identifier: CA530379062

Gene: FH

Linked Data

• dbSNP Id: rs1433703029
• gnomAD v2: 1-241672134-CA-C
• gnomAD v4: 1-241508834-CA-C
• MyVariant Identifiers: chr1:g.241672135del (hg19) ; chr1:g.241508835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508839del , CM000663.2:g.241508839del	GRCh38
NC_000001.10:g.241672139del , CM000663.1:g.241672139del	GRCh37
NC_000001.9:g.239738762del	NCBI36
NG_012338.1:g.15920del , LRG_504:g.15920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1059-50del
ENST00000682162.1:c.585-50del	ENSP00000508203.1:n.585-50del
ENST00000682567.1:n.633-50del
ENST00000683521.1:c.556-50del	ENSP00000506864.1:n.556-50del
ENST00000684161.1:n.1721del
ENST00000684483.1:c.556-75del	ENSP00000507894.1:n.556-75del
ENST00000366560.4:c.556-50del MANE Select	ENSP00000355518.4:n.556-50del
ENST00000366560.3:c.556-50del	ENSP00000355518.3:n.556-50del
NM_000143.3:c.556-50del , LRG_504t1:c.556-50del	NP_000134.2:n.556-50del
XM_011544132.1:c.328-50del	XP_011542434.1:n.328-50del
XM_011544132.2:c.328-50del	XP_011542434.1:n.328-50del
NM_000143.4:c.556-50del MANE Select	NP_000134.2:n.556-50del