Canonical Allele Identifier: CA2607500213

Gene: FH

Linked Data

• dbSNP Id: rs2147915055
• gnomAD v3: 1-241502578-A-G
• gnomAD v4: 1-241502578-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502578A>G , CM000663.2:g.241502578A>G	GRCh38
NC_000001.10:g.241665878A>G , CM000663.1:g.241665878A>G	GRCh37
NC_000001.9:g.239732501A>G	NCBI36
NG_012338.1:g.22177T>C , LRG_504:g.22177T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1612-8T>C
ENST00000682162.1:c.1138-8T>C	ENSP00000508203.1:n.1138-8T>C
ENST00000682567.1:n.2649T>C
ENST00000683521.1:c.1109-8T>C	ENSP00000506864.1:n.1109-8T>C
ENST00000684161.1:n.2324-8T>C
ENST00000684483.1:c.*505-8T>C	ENSP00000507894.1:n.*505-8T>C
ENST00000366560.4:c.1109-8T>C MANE Select	ENSP00000355518.4:n.1109-8T>C
ENST00000366560.3:c.1109-8T>C	ENSP00000355518.3:n.1109-8T>C
NM_000143.3:c.1109-8T>C , LRG_504t1:c.1109-8T>C	NP_000134.2:n.1109-8T>C
XM_011544132.1:c.881-8T>C	XP_011542434.1:n.881-8T>C
XM_011544132.2:c.881-8T>C	XP_011542434.1:n.881-8T>C
NM_000143.4:c.1109-8T>C MANE Select	NP_000134.2:n.1109-8T>C