Canonical Allele Identifier: CA345437337

Gene: FH

Linked Data

• ClinVar Variation Id: 2048907
• ClinVar RCV Id: RCV002909432
• gnomAD v4: 1-241502475-G-T
• MyVariant Identifiers: chr1:g.241665775G>T (hg19) ; chr1:g.241502475G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502475G>T , CM000663.2:g.241502475G>T	GRCh38
NC_000001.10:g.241665775G>T , CM000663.1:g.241665775G>T	GRCh37
NC_000001.9:g.239732398G>T	NCBI36
NG_012338.1:g.22280C>A , LRG_504:g.22280C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1707C>A
ENST00000682162.1:c.1233C>A	ENSP00000508203.1:n.1233C>A
ENST00000682567.1:n.2752C>A
ENST00000683521.1:c.1204C>A	ENSP00000506864.1:p.His402Asn
ENST00000684161.1:n.2419C>A
ENST00000684483.1:c.*600C>A	ENSP00000507894.1:n.*600C>A
ENST00000366560.4:c.1204C>A MANE Select	ENSP00000355518.4:p.His402Asn
ENST00000366560.3:c.1204C>A	ENSP00000355518.3:p.His402Asn
NM_000143.3:c.1204C>A , LRG_504t1:c.1204C>A	NP_000134.2:p.His402Asn
XM_011544132.1:c.976C>A	XP_011542434.1:p.His326Asn
XM_011544132.2:c.976C>A	XP_011542434.1:p.His326Asn
NM_000143.4:c.1204C>A MANE Select	NP_000134.2:p.His402Asn