Revel Score:
ENST00000539494
0.040
ENST00000394988
0.040
ENST00000337138 (MANE Select)
0.040
ENST00000394997
0.040
ENST00000323441
0.040
ENST00000557538
0.040
ENST00000539097
0.040
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.61738090C>A , CM000676.2:g.61738090C>A | GRCh38 |
| NC_000014.8:g.62204808C>A , CM000676.1:g.62204808C>A | GRCh37 |
| NC_000014.7:g.61274561C>A | NCBI36 |
| NG_029606.1:g.47690C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337138.9:c.1253C>A (HIF1A) MANE Select | ENSP00000338018.4:p.Thr418Lys | |
| ENST00000323441.10:c.1253C>A (HIF1A) | ENSP00000323326.6:p.Thr418Lys | |
| ENST00000337138.8:c.1253C>A (HIF1A) | ENSP00000338018.4:p.Thr418Lys | |
| ENST00000394997.5:c.1256C>A (HIF1A) | ENSP00000378446.1:p.Thr419Lys | |
| ENST00000539097.2:c.1325C>A (HIF1A) | ENSP00000437955.1:p.Thr442Lys | |
| ENST00000555014.1:n.220+981C>A (HIF1A) | ||
| ENST00000557538.5:c.1076C>A (HIF1A) | ENSP00000451696.1:p.Thr359Lys | |
| NM_001243084.1:c.1325C>A (HIF1A) | NP_001230013.1:p.Thr442Lys | |
| NM_001530.3:c.1253C>A (HIF1A) | NP_001521.1:p.Thr418Lys | |
| NM_181054.2:c.1253C>A (HIF1A) | NP_851397.1:p.Thr418Lys | |
| XR_943925.1:n.213+12795G>T (HIF1A-AS3) | ||
| XR_943926.1:n.213+12795G>T (HIF1A-AS3) | ||
| XR_943927.1:n.213+12795G>T (HIF1A-AS3) | ||
| XR_943928.1:n.213+12795G>T (HIF1A-AS3) | ||
| XR_943929.1:n.213+12795G>T (HIF1A-AS3) | ||
| NR_144368.1:n.213+12795G>T (HIF1A-AS3) | ||
| NM_001530.4:c.1253C>A (HIF1A) MANE Select | NP_001521.1:p.Thr418Lys | |
| NM_181054.3:c.1253C>A (HIF1A) | NP_851397.1:p.Thr418Lys | |
| NM_001243084.2:c.1325C>A (HIF1A) | NP_001230013.1:p.Thr442Lys |