Canonical Allele Identifier: CA326851763

Gene: EGFL6

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

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