Canonical Allele Identifier: CA1478524

Gene: FH

Linked Data

• ClinVar Variation Id: 1364749
• ClinVar RCV Id: RCV002550324
• dbSNP Id: rs374494513
• ExAC: 1:241665738 C / T
• gnomAD v2: 1-241665738-C-T
• gnomAD v4: 1-241502438-C-T
• MyVariant Identifiers: chr1:g.241665738C>T (hg19) ; chr1:g.241502438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502438C>T , CM000663.2:g.241502438C>T	GRCh38
NC_000001.10:g.241665738C>T , CM000663.1:g.241665738C>T	GRCh37
NC_000001.9:g.239732361C>T	NCBI36
NG_012338.1:g.22317G>A , LRG_504:g.22317G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1739+5G>A
ENST00000682162.1:c.1265+5G>A	ENSP00000508203.1:n.1265+5G>A
ENST00000682567.1:n.2789G>A
ENST00000683521.1:c.1236+5G>A	ENSP00000506864.1:n.1236+5G>A
ENST00000684161.1:n.2451+5G>A
ENST00000684483.1:c.*632+5G>A	ENSP00000507894.1:n.*632+5G>A
ENST00000366560.4:c.1236+5G>A MANE Select	ENSP00000355518.4:n.1236+5G>A
ENST00000366560.3:c.1236+5G>A	ENSP00000355518.3:n.1236+5G>A
NM_000143.3:c.1236+5G>A , LRG_504t1:c.1236+5G>A	NP_000134.2:n.1236+5G>A
XM_011544132.1:c.1008+5G>A	XP_011542434.1:n.1008+5G>A
XM_011544132.2:c.1008+5G>A	XP_011542434.1:n.1008+5G>A
NM_000143.4:c.1236+5G>A MANE Select	NP_000134.2:n.1236+5G>A