Canonical Allele Identifier: CA1931824464
Gene: HIF1AN HGNC NCBI

Linked Data

dbSNP Id: rs1843051315

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100542734C>T , CM000672.2:g.100542734C>T GRCh38
NC_000010.10:g.102302491C>T , CM000672.1:g.102302491C>T GRCh37
NC_000010.9:g.102292481C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000299163.7:c.577+1952C>T MANE Select ENSP00000299163.4:n.577+1952C>T
ENST00000299163.6:c.577+1952C>T ENSP00000299163.4:n.577+1952C>T
ENST00000478787.1:n.341+1952C>T
ENST00000526476.5:c.*384+1952C>T ENSP00000432791.1:n.*384+1952C>T
ENST00000533589.6:c.256+1952C>T ENSP00000433360.2:n.256+1952C>T
NM_017902.2:c.577+1952C>T NP_060372.2:n.577+1952C>T
XM_011539940.1:c.637+1952C>T XP_011538242.1:n.637+1952C>T
XM_011539941.1:c.256+1952C>T XP_011538243.1:n.256+1952C>T
XM_011539940.2:c.637+1952C>T XP_011538242.1:n.637+1952C>T
NM_017902.3:c.577+1952C>T MANE Select NP_060372.2:n.577+1952C>T