Canonical Allele Identifier: CA212938823

Gene: HIF1AN

Linked Data

• dbSNP Id: rs187156140
• gnomAD v2: 10-102302462-A-C
• gnomAD v3: 10-100542705-A-C
• gnomAD v4: 10-100542705-A-C
• MyVariant Identifiers: chr10:g.102302462A>C (hg19) ; chr10:g.100542705A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100542705A>C , CM000672.2:g.100542705A>C	GRCh38
NC_000010.10:g.102302462A>C , CM000672.1:g.102302462A>C	GRCh37
NC_000010.9:g.102292452A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000299163.7:c.577+1923A>C MANE Select	ENSP00000299163.4:n.577+1923A>C
ENST00000299163.6:c.577+1923A>C	ENSP00000299163.4:n.577+1923A>C
ENST00000478787.1:n.341+1923A>C
ENST00000526476.5:c.*384+1923A>C	ENSP00000432791.1:n.*384+1923A>C
ENST00000533589.6:c.256+1923A>C	ENSP00000433360.2:n.256+1923A>C
NM_017902.2:c.577+1923A>C	NP_060372.2:n.577+1923A>C
XM_011539940.1:c.637+1923A>C	XP_011538242.1:n.637+1923A>C
XM_011539941.1:c.256+1923A>C	XP_011538243.1:n.256+1923A>C
XM_011539940.2:c.637+1923A>C	XP_011538242.1:n.637+1923A>C
NM_017902.3:c.577+1923A>C MANE Select	NP_060372.2:n.577+1923A>C