Canonical Allele Identifier: CA184876751

Gene: COLEC10

Linked Data

• dbSNP Id: rs557086982
• gnomAD v2: 8-120012723-C-T
• gnomAD v3: 8-119000484-C-T
• gnomAD v4: 8-119000484-C-T
• MyVariant Identifiers: chr8:g.120012723C>T (hg19) ; chr8:g.119000484C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.119000484C>T , CM000670.2:g.119000484C>T	GRCh38
NC_000008.10:g.120012723C>T , CM000670.1:g.120012723C>T	GRCh37
NC_000008.9:g.120081904C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521788.1:n.122+4911C>T
XM_005250756.2:c.-60+48106C>T	XP_005250813.1:n.-60+48106C>T
NM_001324095.1:c.-323-36952C>T	NP_001311024.1:n.-323-36952C>T
XM_005250756.3:c.-60+48106C>T	XP_005250813.1:n.-60+48106C>T
NM_001324095.2:c.-323-36952C>T	NP_001311024.1:n.-323-36952C>T