Canonical Allele Identifier: CA1118409640
Gene: COLEC10 HGNC NCBI

Linked Data

dbSNP Id: rs1813671855
gnomAD v3: 8-119000374-T-C
gnomAD v4: 8-119000374-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.119000374T>C , CM000670.2:g.119000374T>C GRCh38
NC_000008.10:g.120012613T>C , CM000670.1:g.120012613T>C GRCh37
NC_000008.9:g.120081794T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521788.1:n.122+4801T>C
XM_005250756.2:c.-60+47996T>C XP_005250813.1:n.-60+47996T>C
NM_001324095.1:c.-323-37062T>C NP_001311024.1:n.-323-37062T>C
XM_005250756.3:c.-60+47996T>C XP_005250813.1:n.-60+47996T>C
NM_001324095.2:c.-323-37062T>C NP_001311024.1:n.-323-37062T>C
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