Canonical Allele Identifier: CA1131161065
Gene: EGFL6 HGNC NCBI

Linked Data

dbSNP Id: rs5978649
gnomAD v3: X-13596999-A-T
gnomAD v4: X-13596999-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13596999A>T , CM000685.2:g.13596999A>T GRCh38
NC_000023.10:g.13615118A>T , CM000685.1:g.13615118A>T GRCh37
NC_000023.9:g.13525039A>T NCBI36
NG_015963.1:g.32425A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361306.6:c.280+2071A>T MANE Select ENSP00000355126.1:n.280+2071A>T
ENST00000361306.5:c.280+2071A>T ENSP00000355126.1:n.280+2071A>T
ENST00000380602.3:c.280+2071A>T ENSP00000369976.3:n.280+2071A>T
NM_001167890.1:c.280+2071A>T NP_001161362.1:n.280+2071A>T
NM_015507.3:c.280+2071A>T NP_056322.2:n.280+2071A>T
NM_015507.4:c.280+2071A>T MANE Select NP_056322.2:n.280+2071A>T
NM_001167890.2:c.280+2071A>T NP_001161362.1:n.280+2071A>T
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