Canonical Allele Identifier: CA658897394

Gene: HIF1AN

Linked Data

• dbSNP Id: rs1314394928
• gnomAD v3: 10-100542739-CCT-C
• gnomAD v4: 10-100542739-CCT-C
• MyVariant Identifiers: chr10:g.102302497_102302498del (hg19) ; chr10:g.100542740_100542741del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100542740_100542741del , CM000672.2:g.100542740_100542741del	GRCh38
NC_000010.10:g.102302497_102302498del , CM000672.1:g.102302497_102302498del	GRCh37
NC_000010.9:g.102292487_102292488del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000299163.7:c.577+1958_577+1959del MANE Select	ENSP00000299163.4:n.577+1958_577+1959del
ENST00000299163.6:c.577+1958_577+1959del	ENSP00000299163.4:n.577+1958_577+1959del
ENST00000478787.1:n.341+1958_341+1959del
ENST00000526476.5:c.*384+1958_*384+1959del	ENSP00000432791.1:n.*384+1958_*384+1959de...
ENST00000533589.6:c.256+1958_256+1959del	ENSP00000433360.2:n.256+1958_256+1959del
NM_017902.2:c.577+1958_577+1959del	NP_060372.2:n.577+1958_577+1959del
XM_011539940.1:c.637+1958_637+1959del	XP_011538242.1:n.637+1958_637+1959del
XM_011539941.1:c.256+1958_256+1959del	XP_011538243.1:n.256+1958_256+1959del
XM_011539940.2:c.637+1958_637+1959del	XP_011538242.1:n.637+1958_637+1959del
NM_017902.3:c.577+1958_577+1959del MANE Select	NP_060372.2:n.577+1958_577+1959del