Canonical Allele Identifier: CA14612517
Gene: COLEC12 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.355944A>G
GRCh37 chr18:g.355944A>G
gnomAD v2:
18:355944 A / G
gnomAD v3:
18:355944 A / G
gnomAD v4:
chr18-355944-A-G
Joint Max Group AF 0.62836406 (AFR)
Genomes Max Group AF 0.62836406 (AFR)
dbSNP:
644435
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.355944A>G , CM000680.2:g.355944A>G GRCh38
NC_000018.9:g.355944A>G , CM000680.1:g.355944A>G GRCh37
NC_000018.8:g.345944A>G NCBI36
NG_030342.1:g.149786T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400256.5:c.181+1456T>C MANE Select ENSP00000383115.3:n.181+1456T>C
ENST00000400256.4:c.181+1456T>C ENSP00000383115.3:n.181+1456T>C
ENST00000582147.1:n.389+1456T>C
NM_130386.2:c.181+1456T>C NP_569057.1:n.181+1456T>C
XM_011525741.1:c.130+1456T>C XP_011524043.1:n.130+1456T>C
XM_011525741.2:c.130+1456T>C XP_011524043.1:n.130+1456T>C
NM_130386.3:c.181+1456T>C MANE Select NP_569057.2:n.181+1456T>C
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