Canonical Allele Identifier: CA1478668

Gene: FH

Linked Data

• ClinVar Variation Id: 393565
• ClinVar RCV Id: RCV000445584 ; RCV000572356 ; RCV000486167 ; RCV003470388
• dbSNP Id: rs768182640
• ExAC: 1:241675268 T / TCA
• gnomAD v2: 1-241675268-T-TCA
• gnomAD v4: 1-241511968-T-TCA
• MyVariant Identifiers: chr1:g.241675268_241675269insCA (hg19) ; chr1:g.241511968_241511969insCA (hg38)
• PubMed: PMID:26023681

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511968_241511969insCA , CM000663.2:g.241511968_241511969insCA	GRCh38
NC_000001.10:g.241675268_241675269insCA , CM000663.1:g.241675268_241675269insCA	GRCh37
NC_000001.9:g.239741891_239741892insCA	NCBI36
NG_012338.1:g.12786_12787insTG , LRG_504:g.12786_12787insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1056_1057insTG
ENST00000682162.1:c.582_583insTG	ENSP00000508203.1:n.582_583insTG
ENST00000682567.1:n.630_631insTG
ENST00000683521.1:c.553_554insTG	ENSP00000506864.1:p.Gln185LeufsTer18
ENST00000684483.1:c.553_554insTG	ENSP00000507894.1:p.Gln185LeufsTer13
ENST00000366560.4:c.553_554insTG MANE Select	ENSP00000355518.4:p.Gln185LeufsTer18
ENST00000366560.3:c.553_554insTG	ENSP00000355518.3:p.Gln185LeufsTer18
ENST00000497042.1:n.249_250insTG
NM_000143.3:c.553_554insTG , LRG_504t1:c.553_554insTG	NP_000134.2:p.Gln185LeufsTer18
XM_011544132.1:c.325_326insTG	XP_011542434.1:p.Gln109LeufsTer18
XM_011544132.2:c.325_326insTG	XP_011542434.1:p.Gln109LeufsTer18
NM_000143.4:c.553_554insTG MANE Select	NP_000134.2:p.Gln185LeufsTer18