Canonical Allele Identifier: CA529927531

Gene: FH

Linked Data

• dbSNP Id: rs769517349
• gnomAD v2: 1-241665706-T-C
• gnomAD v4: 1-241502406-T-C
• MyVariant Identifiers: chr1:g.241665706T>C (hg19) ; chr1:g.241502406T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502406T>C , CM000663.2:g.241502406T>C	GRCh38
NC_000001.10:g.241665706T>C , CM000663.1:g.241665706T>C	GRCh37
NC_000001.9:g.239732329T>C	NCBI36
NG_012338.1:g.22349A>G , LRG_504:g.22349A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1739+37A>G
ENST00000682162.1:c.1265+37A>G	ENSP00000508203.1:n.1265+37A>G
ENST00000682567.1:n.2821A>G
ENST00000683521.1:c.1236+37A>G	ENSP00000506864.1:n.1236+37A>G
ENST00000684161.1:n.2451+37A>G
ENST00000684483.1:c.*632+37A>G	ENSP00000507894.1:n.*632+37A>G
ENST00000366560.4:c.1236+37A>G MANE Select	ENSP00000355518.4:n.1236+37A>G
ENST00000366560.3:c.1236+37A>G	ENSP00000355518.3:n.1236+37A>G
NM_000143.3:c.1236+37A>G , LRG_504t1:c.1236+37A>G	NP_000134.2:n.1236+37A>G
XM_011544132.1:c.1008+37A>G	XP_011542434.1:n.1008+37A>G
XM_011544132.2:c.1008+37A>G	XP_011542434.1:n.1008+37A>G
NM_000143.4:c.1236+37A>G MANE Select	NP_000134.2:n.1236+37A>G