Canonical Allele Identifier: CA212938825

Gene: HIF1AN

Linked Data

• dbSNP Id: rs957853124
• gnomAD v3: 10-100542712-G-T
• gnomAD v4: 10-100542712-G-T
• MyVariant Identifiers: chr10:g.102302469G>T (hg19) ; chr10:g.100542712G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100542712G>T , CM000672.2:g.100542712G>T	GRCh38
NC_000010.10:g.102302469G>T , CM000672.1:g.102302469G>T	GRCh37
NC_000010.9:g.102292459G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000299163.7:c.577+1930G>T MANE Select	ENSP00000299163.4:n.577+1930G>T
ENST00000299163.6:c.577+1930G>T	ENSP00000299163.4:n.577+1930G>T
ENST00000478787.1:n.341+1930G>T
ENST00000526476.5:c.*384+1930G>T	ENSP00000432791.1:n.*384+1930G>T
ENST00000533589.6:c.256+1930G>T	ENSP00000433360.2:n.256+1930G>T
NM_017902.2:c.577+1930G>T	NP_060372.2:n.577+1930G>T
XM_011539940.1:c.637+1930G>T	XP_011538242.1:n.637+1930G>T
XM_011539941.1:c.256+1930G>T	XP_011538243.1:n.256+1930G>T
XM_011539940.2:c.637+1930G>T	XP_011538242.1:n.637+1930G>T
NM_017902.3:c.577+1930G>T MANE Select	NP_060372.2:n.577+1930G>T