Canonical Allele Identifier: CA3191090
Gene: ICE1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.5462587A>G
GRCh37 chr5:g.5462700A>G
Revel Score:
ENST00000296564 (MANE Select) 0.035
gnomAD v2:
5:5462700 A / G
gnomAD v3:
5:5462587 A / G
gnomAD v4:
chr5-5462587-A-G
Joint Max Group AF 0.00005193 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00005248 (NFE)
ClinVar RCV:
RCV004085874
ClinVar Variation:
2220875
dbSNP:
762925075
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.5462587A>G , CM000667.2:g.5462587A>G GRCh38
NC_000005.9:g.5462700A>G , CM000667.1:g.5462700A>G GRCh37
NC_000005.8:g.5515700A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296564.9:c.3253A>G MANE Select ENSP00000296564.7:p.Thr1085Ala
ENST00000296564.8:c.3253A>G ENSP00000296564.7:p.Thr1085Ala
NM_015325.2:c.3253A>G NP_056140.1:p.Thr1085Ala
XM_011513999.1:c.3253A>G XP_011512301.1:p.Thr1085Ala
XR_925602.1:n.3496A>G
XM_011513999.2:c.3253A>G XP_011512301.1:p.Thr1085Ala
XM_017009285.2:c.2443A>G XP_016864774.1:p.Thr815Ala
XR_001742051.1:n.3496A>G
NM_015325.3:c.3253A>G MANE Select NP_056140.1:p.Thr1085Ala
Search 100 bp 5'
Search 100 bp 3'