Canonical Allele Identifier: CA733680054

Gene: FH

Linked Data

• dbSNP Id: rs1200563916
• gnomAD v3: 1-241502901-G-C
• gnomAD v4: 1-241502901-G-C
• MyVariant Identifiers: chr1:g.241666201G>C (hg19) ; chr1:g.241502901G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502901G>C , CM000663.2:g.241502901G>C	GRCh38
NC_000001.10:g.241666201G>C , CM000663.1:g.241666201G>C	GRCh37
NC_000001.9:g.239732824G>C	NCBI36
NG_012338.1:g.21854C>G , LRG_504:g.21854C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1612-331C>G
ENST00000682162.1:c.1138-331C>G	ENSP00000508203.1:n.1138-331C>G
ENST00000682567.1:n.2326C>G
ENST00000683521.1:c.1109-331C>G	ENSP00000506864.1:n.1109-331C>G
ENST00000684161.1:n.2324-331C>G
ENST00000684483.1:c.*505-331C>G	ENSP00000507894.1:n.*505-331C>G
ENST00000366560.4:c.1109-331C>G MANE Select	ENSP00000355518.4:n.1109-331C>G
ENST00000366560.3:c.1109-331C>G	ENSP00000355518.3:n.1109-331C>G
NM_000143.3:c.1109-331C>G , LRG_504t1:c.1109-331C>G	NP_000134.2:n.1109-331C>G
XM_011544132.1:c.881-331C>G	XP_011542434.1:n.881-331C>G
XM_011544132.2:c.881-331C>G	XP_011542434.1:n.881-331C>G
NM_000143.4:c.1109-331C>G MANE Select	NP_000134.2:n.1109-331C>G