Canonical Allele Identifier: CA345437731

Gene: FH

Linked Data

• gnomAD v4: 1-241502572-T-C
• MyVariant Identifiers: chr1:g.241665872T>C (hg19) ; chr1:g.241502572T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502572T>C , CM000663.2:g.241502572T>C	GRCh38
NC_000001.10:g.241665872T>C , CM000663.1:g.241665872T>C	GRCh37
NC_000001.9:g.239732495T>C	NCBI36
NG_012338.1:g.22183A>G , LRG_504:g.22183A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1612-2A>G
ENST00000682162.1:c.1138-2A>G	ENSP00000508203.1:n.1138-2A>G
ENST00000682567.1:n.2655A>G
ENST00000683521.1:c.1109-2A>G	ENSP00000506864.1:n.1109-2A>G
ENST00000684161.1:n.2324-2A>G
ENST00000684483.1:c.*505-2A>G	ENSP00000507894.1:n.*505-2A>G
ENST00000366560.4:c.1109-2A>G MANE Select	ENSP00000355518.4:n.1109-2A>G
ENST00000366560.3:c.1109-2A>G	ENSP00000355518.3:n.1109-2A>G
NM_000143.3:c.1109-2A>G , LRG_504t1:c.1109-2A>G	NP_000134.2:n.1109-2A>G
XM_011544132.1:c.881-2A>G	XP_011542434.1:n.881-2A>G
XM_011544132.2:c.881-2A>G	XP_011542434.1:n.881-2A>G
NM_000143.4:c.1109-2A>G MANE Select	NP_000134.2:n.1109-2A>G