Canonical Allele Identifier: CA184876733
Gene: COLEC10 HGNC NCBI

Linked Data

dbSNP Id: rs150406639
gnomAD v2: 8-120012642-C-T
gnomAD v3: 8-119000403-C-T
gnomAD v4: 8-119000403-C-T
MyVariant Identifiers: chr8:g.120012642C>T (hg19) chr8:g.119000403C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.119000403C>T , CM000670.2:g.119000403C>T GRCh38
NC_000008.10:g.120012642C>T , CM000670.1:g.120012642C>T GRCh37
NC_000008.9:g.120081823C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521788.1:n.122+4830C>T
XM_005250756.2:c.-60+48025C>T XP_005250813.1:n.-60+48025C>T
NM_001324095.1:c.-323-37033C>T NP_001311024.1:n.-323-37033C>T
XM_005250756.3:c.-60+48025C>T XP_005250813.1:n.-60+48025C>T
NM_001324095.2:c.-323-37033C>T NP_001311024.1:n.-323-37033C>T
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