Canonical Allele Identifier: CA846349392

Gene: COLEC10

Linked Data

• dbSNP Id: rs1169408865
• gnomAD v3: 8-119000480-T-C
• gnomAD v4: 8-119000480-T-C
• MyVariant Identifiers: chr8:g.120012719T>C (hg19) ; chr8:g.119000480T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.119000480T>C , CM000670.2:g.119000480T>C	GRCh38
NC_000008.10:g.120012719T>C , CM000670.1:g.120012719T>C	GRCh37
NC_000008.9:g.120081900T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000521788.1:n.122+4907T>C
XM_005250756.2:c.-60+48102T>C	XP_005250813.1:n.-60+48102T>C
NM_001324095.1:c.-323-36956T>C	NP_001311024.1:n.-323-36956T>C
XM_005250756.3:c.-60+48102T>C	XP_005250813.1:n.-60+48102T>C
NM_001324095.2:c.-323-36956T>C	NP_001311024.1:n.-323-36956T>C