Canonical Allele Identifier: CA733680047

Gene: FH

Linked Data

• dbSNP Id: rs1042768477
• gnomAD v3: 1-241502801-C-A
• gnomAD v4: 1-241502801-C-A
• MyVariant Identifiers: chr1:g.241666101C>A (hg19) ; chr1:g.241502801C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502801C>A , CM000663.2:g.241502801C>A	GRCh38
NC_000001.10:g.241666101C>A , CM000663.1:g.241666101C>A	GRCh37
NC_000001.9:g.239732724C>A	NCBI36
NG_012338.1:g.21954G>T , LRG_504:g.21954G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1612-231G>T
ENST00000682162.1:c.1138-231G>T	ENSP00000508203.1:n.1138-231G>T
ENST00000682567.1:n.2426G>T
ENST00000683521.1:c.1109-231G>T	ENSP00000506864.1:n.1109-231G>T
ENST00000684161.1:n.2324-231G>T
ENST00000684483.1:c.*505-231G>T	ENSP00000507894.1:n.*505-231G>T
ENST00000366560.4:c.1109-231G>T MANE Select	ENSP00000355518.4:n.1109-231G>T
ENST00000366560.3:c.1109-231G>T	ENSP00000355518.3:n.1109-231G>T
NM_000143.3:c.1109-231G>T , LRG_504t1:c.1109-231G>T	NP_000134.2:n.1109-231G>T
XM_011544132.1:c.881-231G>T	XP_011542434.1:n.881-231G>T
XM_011544132.2:c.881-231G>T	XP_011542434.1:n.881-231G>T
NM_000143.4:c.1109-231G>T MANE Select	NP_000134.2:n.1109-231G>T