Canonical Allele Identifier: CA324272
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 214396
ClinVar RCV Id: RCV000199721
dbSNP Id: rs863223984
MyVariant Identifiers: chr1:g.241669413_241669433dup21 (hg19) chr1:g.241669412_241669413insGCAGCTTTTATTCTTGTCATT (hg19) chr1:g.241506113_241506133dup21 (hg38) chr1:g.241506112_241506113insGCAGCTTTTATTCTTGTCATT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241506116_241506136dup , CM000663.2:g.241506116_241506136dup GRCh38
NC_000001.10:g.241669416_241669436dup , CM000663.1:g.241669416_241669436dup GRCh37
NC_000001.9:g.239736039_239736059dup NCBI36
NG_012338.1:g.18622_18642dup , LRG_504:g.18622_18642dup

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1277_1297dup
ENST00000682162.1:c.803_823dup ENSP00000508203.1:n.803_823dup
ENST00000682567.1:n.851_871dup
ENST00000683521.1:c.774_794dup ENSP00000506864.1:p.Ala265_Met266insMetTh...
ENST00000684161.1:n.1989_2009dup
ENST00000684483.1:c.*170_*190dup ENSP00000507894.1:n.*170_*190dup
ENST00000366560.4:c.774_794dup MANE Select ENSP00000355518.4:p.Ala265_Met266insMetTh...
ENST00000366560.3:c.774_794dup ENSP00000355518.3:p.Ala265_Met266insMetTh...
NM_000143.3:c.774_794dup , LRG_504t1:c.774_794dup NP_000134.2:p.Ala265_Met266insMetThrArgIl...
XM_011544132.1:c.546_566dup XP_011542434.1:p.Ala189_Met190insMetThrAr...
XM_011544132.2:c.546_566dup XP_011542434.1:p.Ala189_Met190insMetThrAr...
NM_000143.4:c.774_794dup MANE Select NP_000134.2:p.Ala265_Met266insMetThrArgIl...
Search 100 bp 5'
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