Canonical Allele Identifier: CA846349332
Gene: COLEC10 HGNC NCBI

Linked Data

dbSNP Id: rs1168853029
gnomAD v3: 8-119000348-A-G
gnomAD v4: 8-119000348-A-G
MyVariant Identifiers: chr8:g.120012587A>G (hg19) chr8:g.119000348A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.119000348A>G , CM000670.2:g.119000348A>G GRCh38
NC_000008.10:g.120012587A>G , CM000670.1:g.120012587A>G GRCh37
NC_000008.9:g.120081768A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521788.1:n.122+4775A>G
XM_005250756.2:c.-60+47970A>G XP_005250813.1:n.-60+47970A>G
NM_001324095.1:c.-323-37088A>G NP_001311024.1:n.-323-37088A>G
XM_005250756.3:c.-60+47970A>G XP_005250813.1:n.-60+47970A>G
NM_001324095.2:c.-323-37088A>G NP_001311024.1:n.-323-37088A>G
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