Canonical Allele Identifier: CA846349387

Gene: COLEC10

Linked Data

• dbSNP Id: rs1402491952
• gnomAD v3: 8-119000464-A-G
• gnomAD v4: 8-119000464-A-G
• MyVariant Identifiers: chr8:g.120012703A>G (hg19) ; chr8:g.119000464A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.119000464A>G , CM000670.2:g.119000464A>G	GRCh38
NC_000008.10:g.120012703A>G , CM000670.1:g.120012703A>G	GRCh37
NC_000008.9:g.120081884A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521788.1:n.122+4891A>G
XM_005250756.2:c.-60+48086A>G	XP_005250813.1:n.-60+48086A>G
NM_001324095.1:c.-323-36972A>G	NP_001311024.1:n.-323-36972A>G
XM_005250756.3:c.-60+48086A>G	XP_005250813.1:n.-60+48086A>G
NM_001324095.2:c.-323-36972A>G	NP_001311024.1:n.-323-36972A>G