Canonical Allele Identifier: CA345438308

Gene: FH

Linked Data

• gnomAD v4: 1-241504179-A-G
• MyVariant Identifiers: chr1:g.241667479A>G (hg19) ; chr1:g.241504179A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504179A>G , CM000663.2:g.241504179A>G	GRCh38
NC_000001.10:g.241667479A>G , CM000663.1:g.241667479A>G	GRCh37
NC_000001.9:g.239734102A>G	NCBI36
NG_012338.1:g.20576T>C , LRG_504:g.20576T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1474T>C
ENST00000682162.1:c.1000T>C	ENSP00000508203.1:n.1000T>C
ENST00000682567.1:n.1048T>C
ENST00000683521.1:c.971T>C	ENSP00000506864.1:p.Leu324Pro
ENST00000684161.1:n.2186T>C
ENST00000684483.1:c.*367T>C	ENSP00000507894.1:n.*367T>C
ENST00000366560.4:c.971T>C MANE Select	ENSP00000355518.4:p.Leu324Pro
ENST00000366560.3:c.971T>C	ENSP00000355518.3:p.Leu324Pro
NM_000143.3:c.971T>C , LRG_504t1:c.971T>C	NP_000134.2:p.Leu324Pro
XM_011544132.1:c.743T>C	XP_011542434.1:p.Leu248Pro
XM_011544132.2:c.743T>C	XP_011542434.1:p.Leu248Pro
NM_000143.4:c.971T>C MANE Select	NP_000134.2:p.Leu324Pro