Canonical Allele Identifier: CA733680024

Gene: FH

Linked Data

• dbSNP Id: rs1217759816
• gnomAD v4: 1-241502384-CA-C
• MyVariant Identifiers: chr1:g.241665685del (hg19) ; chr1:g.241502385del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502388del , CM000663.2:g.241502388del	GRCh38
NC_000001.10:g.241665688del , CM000663.1:g.241665688del	GRCh37
NC_000001.9:g.239732311del	NCBI36
NG_012338.1:g.22370del , LRG_504:g.22370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1739+58del
ENST00000682162.1:c.1265+58del	ENSP00000508203.1:n.1265+58del
ENST00000682567.1:n.2842del
ENST00000683521.1:c.1236+58del	ENSP00000506864.1:n.1236+58del
ENST00000684161.1:n.2451+58del
ENST00000684483.1:c.*632+58del	ENSP00000507894.1:n.*632+58del
ENST00000366560.4:c.1236+58del MANE Select	ENSP00000355518.4:n.1236+58del
ENST00000366560.3:c.1236+58del	ENSP00000355518.3:n.1236+58del
NM_000143.3:c.1236+58del , LRG_504t1:c.1236+58del	NP_000134.2:n.1236+58del
XM_011544132.1:c.1008+58del	XP_011542434.1:n.1008+58del
XM_011544132.2:c.1008+58del	XP_011542434.1:n.1008+58del
NM_000143.4:c.1236+58del MANE Select	NP_000134.2:n.1236+58del