Canonical Allele Identifier: CA645369391

Gene: H1-4

Linked Data

• ClinVar Variation Id: 428606
• ClinVar RCV Id: RCV000492407 ; RCV000782004 ; RCV003984842
• dbSNP Id: rs1131690806
• MyVariant Identifiers: chr6:g.26157059dup (hg19) ; chr6:g.26156831dup (hg38)
• PubMed: PMID:28475857

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26156831dup , CM000668.2:g.26156831dup	GRCh38
NC_000006.11:g.26157059dup , CM000668.1:g.26157059dup	GRCh37
NC_000006.10:g.26265038dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304218.6:c.441dup MANE Select	ENSP00000307705.4:p.Lys148GlnfsTer?
ENST00000304218.5:c.441dup	ENSP00000307705.3:p.Lys148GlnfsTer?
NM_005321.2:c.441dup	NP_005312.1:p.Lys148GlnfsTer?
NM_005321.3:c.441dup MANE Select	NP_005312.1:p.Lys148GlnfsTer?