Canonical Allele Identifier: CA10610740
Gene: FH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241497726A>G
GRCh37 chr1:g.241661026A>G
gnomAD v3:
1:241497726 A / G
gnomAD v4:
chr1-241497726-A-G
Joint Max Group AF 0.00206753 (MID)
Genomes Max Group AF 0.0004086 (SAS)
Exomes Max Group AF 0.00201985 (MID)
ClinVar RCV:
RCV000297371
RCV000355546
ClinVar Variation:
296859
dbSNP:
200093224
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241497726A>G , CM000663.2:g.241497726A>G GRCh38
NC_000001.10:g.241661026A>G , CM000663.1:g.241661026A>G GRCh37
NC_000001.9:g.239727649A>G NCBI36
NG_012338.1:g.27029T>C , LRG_504:g.27029T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.2138T>C
ENST00000682162.1:c.1664T>C ENSP00000508203.1:n.1664T>C
ENST00000682567.1:n.5035T>C
ENST00000684161.1:n.2850T>C
ENST00000684483.1:c.*1031T>C ENSP00000507894.1:n.*1031T>C
ENST00000366560.4:c.*102T>C MANE Select ENSP00000355518.4:n.*102T>C
ENST00000366560.3:c.*102T>C ENSP00000355518.3:n.*102T>C
NM_000143.3:c.*102T>C , LRG_504t1:c.*102T>C NP_000134.2:n.*102T>C
XM_011544132.1:c.*102T>C XP_011542434.1:n.*102T>C
XM_011544132.2:c.*102T>C XP_011542434.1:n.*102T>C
NM_000143.4:c.*102T>C MANE Select NP_000134.2:n.*102T>C
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