Canonical Allele Identifier: CA12773496

Gene: COLEC10

Linked Data

• dbSNP Id: rs10505348
• gnomAD v2: 8-119972696-T-C
• gnomAD v3: 8-118960457-T-C
• gnomAD v4: 8-118960457-T-C
• MyVariant Identifiers: chr8:g.119972696T>C (hg19) ; chr8:g.118960457T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118960457T>C , CM000670.2:g.118960457T>C	GRCh38
NC_000008.10:g.119972696T>C , CM000670.1:g.119972696T>C	GRCh37
NC_000008.9:g.120041877T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_005250756.2:c.-60+8079T>C	XP_005250813.1:n.-60+8079T>C
NM_001324095.1:c.-324+8079T>C	NP_001311024.1:n.-324+8079T>C
XM_005250756.3:c.-60+8079T>C	XP_005250813.1:n.-60+8079T>C
NM_001324095.2:c.-324+8079T>C	NP_001311024.1:n.-324+8079T>C