Linked Data
ClinVar Variation Id:
716592
ClinVar RCV Id:
RCV000889262
dbSNP Id:
rs142179458
ExAC:
14:62203623 G / A
gnomAD v2:
14-62203623-G-A
gnomAD v3:
14-61736905-G-A
gnomAD v4:
14-61736905-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.61736905G>A , CM000676.2:g.61736905G>A | GRCh38 |
| NC_000014.8:g.62203623G>A , CM000676.1:g.62203623G>A | GRCh37 |
| NC_000014.7:g.61273376G>A | NCBI36 |
| NG_029606.1:g.46505G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337138.9:c.1045G>A (HIF1A) MANE Select | ENSP00000338018.4:p.Asp349Asn | |
| ENST00000323441.10:c.1045G>A (HIF1A) | ENSP00000323326.6:p.Asp349Asn | |
| ENST00000337138.8:c.1045G>A (HIF1A) | ENSP00000338018.4:p.Asp349Asn | |
| ENST00000394997.5:c.1048G>A (HIF1A) | ENSP00000378446.1:p.Asp350Asn | |
| ENST00000539097.2:c.1117G>A (HIF1A) | ENSP00000437955.1:p.Asp373Asn | |
| ENST00000555014.1:n.16G>A (HIF1A) | ||
| ENST00000557538.5:c.868G>A (HIF1A) | ENSP00000451696.1:p.Asp290Asn | |
| NM_001243084.1:c.1117G>A (HIF1A) | NP_001230013.1:p.Asp373Asn | |
| NM_001530.3:c.1045G>A (HIF1A) | NP_001521.1:p.Asp349Asn | |
| NM_181054.2:c.1045G>A (HIF1A) | NP_851397.1:p.Asp349Asn | |
| XR_943925.1:n.213+13980C>T (HIF1A-AS3) | ||
| XR_943926.1:n.213+13980C>T (HIF1A-AS3) | ||
| XR_943927.1:n.213+13980C>T (HIF1A-AS3) | ||
| XR_943928.1:n.213+13980C>T (HIF1A-AS3) | ||
| XR_943929.1:n.213+13980C>T (HIF1A-AS3) | ||
| NR_144368.1:n.213+13980C>T (HIF1A-AS3) | ||
| NM_001530.4:c.1045G>A (HIF1A) MANE Select | NP_001521.1:p.Asp349Asn | |
| NM_181054.3:c.1045G>A (HIF1A) | NP_851397.1:p.Asp349Asn | |
| NM_001243084.2:c.1117G>A (HIF1A) | NP_001230013.1:p.Asp373Asn |