Canonical Allele Identifier: CA7215893
Gene: HIF1A HGNC NCBI
HIF1A-AS3 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.61738090C>T
GRCh37 chr14:g.62204808C>T
Revel Score:
ENST00000539494 0.050
ENST00000394988 0.050
ENST00000337138 (MANE Select) 0.050
ENST00000394997 0.050
ENST00000323441 0.050
ENST00000557538 0.050
ENST00000539097 0.050
gnomAD v2:
14:62204808 C / T
gnomAD v3:
14:61738090 C / T
gnomAD v4:
chr14-61738090-C-T
Joint Max Group AF 0.00675346 (NFE)
Genomes Max Group AF 0.00611869 (AMR)
Exomes Max Group AF 0.00681244 (NFE)
ClinVar RCV:
RCV000957907
ClinVar Variation:
777435
dbSNP:
41508050
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.61738090C>T , CM000676.2:g.61738090C>T GRCh38
NC_000014.8:g.62204808C>T , CM000676.1:g.62204808C>T GRCh37
NC_000014.7:g.61274561C>T NCBI36
NG_029606.1:g.47690C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337138.9:c.1253C>T (HIF1A) MANE Select ENSP00000338018.4:p.Thr418Ile
ENST00000323441.10:c.1253C>T (HIF1A) ENSP00000323326.6:p.Thr418Ile
ENST00000337138.8:c.1253C>T (HIF1A) ENSP00000338018.4:p.Thr418Ile
ENST00000394997.5:c.1256C>T (HIF1A) ENSP00000378446.1:p.Thr419Ile
ENST00000539097.2:c.1325C>T (HIF1A) ENSP00000437955.1:p.Thr442Ile
ENST00000555014.1:n.220+981C>T (HIF1A)
ENST00000557538.5:c.1076C>T (HIF1A) ENSP00000451696.1:p.Thr359Ile
NM_001243084.1:c.1325C>T (HIF1A) NP_001230013.1:p.Thr442Ile
NM_001530.3:c.1253C>T (HIF1A) NP_001521.1:p.Thr418Ile
NM_181054.2:c.1253C>T (HIF1A) NP_851397.1:p.Thr418Ile
XR_943925.1:n.213+12795G>A (HIF1A-AS3)
XR_943926.1:n.213+12795G>A (HIF1A-AS3)
XR_943927.1:n.213+12795G>A (HIF1A-AS3)
XR_943928.1:n.213+12795G>A (HIF1A-AS3)
XR_943929.1:n.213+12795G>A (HIF1A-AS3)
NR_144368.1:n.213+12795G>A (HIF1A-AS3)
NM_001530.4:c.1253C>T (HIF1A) MANE Select NP_001521.1:p.Thr418Ile
NM_181054.3:c.1253C>T (HIF1A) NP_851397.1:p.Thr418Ile
NM_001243084.2:c.1325C>T (HIF1A) NP_001230013.1:p.Thr442Ile
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